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Sample records for hemidiaphragmatic agenesis presenting

  1. Congenital right hemidiaphragmatic agenesis

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    Bilal Mirza

    2012-01-01

    Full Text Available Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  2. Congenital right hemidiaphragmatic agenesis.

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    Mirza, Bilal; Bashir, Zahid; Sheikh, Afzal

    2012-01-01

    Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  3. Congenital right hemidiaphragmatic agenesis

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    Bilal Mirza; Zahid Bashir; Afzal Sheikh

    2012-01-01

    Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right...

  4. Adult presentation of symptomatic left lung agenesis.

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    Kaya, Omer; Gulek, Bozkurt; Yilmaz, Cengiz; Soker, Gokhan; Esen, Kaan; Akin, Mehmet Ali; Dilek, Okan

    2017-03-01

    Pulmonary agenesis is a rarely encountered congenital anomaly, and its average prevalence is about 1 in 100,000 births. Anomalies of the cardiovascular, musculoskeletal, gastrointestinal, or genitourinary systems may accompany in nearly half of the cases. The diagnosis of pulmonary agenesis is usually made during childhood, but the diagnosis may be delayed until adulthood in case of an absence of comorbid anomalies . Herein, we present a case of pulmonary agenesis that was diagnosed during adulthood.

  5. Adult presentation of symptomatic left lung agenesis

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    Kaya, Omer; Gulek, Bozkurt; Yilmaz, Cengiz; Soker, Gokhan; Esen, Kaan; Akin, Mehmet Ali; Dilek, Okan

    2017-01-01

    Pulmonary agenesis is a rarely encountered congenital anomaly, and its average prevalence is about 1 in 100,000 births. Anomalies of the cardiovascular, musculoskeletal, gastrointestinal, or genitourinary systems may accompany in nearly half of the cases. The diagnosis of pulmonary agenesis is usually made during childhood, but the diagnosis may be delayed until adulthood in case of an absence of comorbid anomalies . Herein, we present a case of pulmonary agenesis that was diagnosed during ad...

  6. Adult presentation of symptomatic left lung agenesis

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    Omer Kaya, MD

    2017-03-01

    Full Text Available Pulmonary agenesis is a rarely encountered congenital anomaly, and its average prevalence is about 1 in 100,000 births. Anomalies of the cardiovascular, musculoskeletal, gastrointestinal, or genitourinary systems may accompany in nearly half of the cases. The diagnosis of pulmonary agenesis is usually made during childhood, but the diagnosis may be delayed until adulthood in case of an absence of comorbid anomalies . Herein, we present a case of pulmonary agenesis that was diagnosed during adulthood.

  7. Agenesis of the dorsal mesentery presenting in an adolescent

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    Anith Chacko

    2013-03-01

    Full Text Available Agenesis of the dorsal mesentery is a rare occurrence that usually presents in children. It is associated with proximal small bowel malrotation as well as high jejunal atresia with discontinuity of the small bowel. We present a case report of an adolescent presenting with clinical features of proximal small bowel obstruction (confirmed on imaging as well as acute pancreatitis. At laparotomy, he was found to have no dorsal mesentery, without small bowel atresia, and the duodenum was fixed to the posterior abdominal wall. The patient recovered well and remained symptom-free.

  8. Congenital agenesis of internal carotid artery with ipsilateral Horner presenting as focal neurological symptoms

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    Wassim Farhat; Rechdi Ahdab; Hassan Hosseini

    2011-01-01

    Wassim Farhat, Rechdi Ahdab, Hassan HosseiniService de Neurologie, Hôpital Henri Mondor, APHP, Faculté de Médecine, Université Paris XII, Créteil, FranceAbstract: Internal carotid artery (ICA) agenesis is a rare developmental anomaly and is most frequently asymptomatic, but it may also present as cerebrovascular accidents. The association with Horner’s syndrome is exceptional. We present three cases of agenesis of ICA associated ...

  9. Congenital agenesis of internal carotid artery with ipsilateral Horner presenting as focal neurological symptoms

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    Hosseini H

    2011-01-01

    Full Text Available Wassim Farhat, Rechdi Ahdab, Hassan HosseiniService de Neurologie, Hôpital Henri Mondor, APHP, Faculté de Médecine, Université Paris XII, Créteil, FranceAbstract: Internal carotid artery (ICA agenesis is a rare developmental anomaly and is most frequently asymptomatic, but it may also present as cerebrovascular accidents. The association with Horner’s syndrome is exceptional. We present three cases of agenesis of ICA associated with Horner’s syndrome and hypochromia iridum presenting as focal neurological symptoms. A system of collaterals develops as a consequence of agenesis of the ICA, making the majority of cases asymptomatic. Three types of collateral circulations have been described. These collaterals increase the risk of aneurysm formation and the occurrence of life-threatening subarachnoid hemorrhages. The association of congenital Horner’s syndrome and hypochromia iridum without anhidrosis is highly suggestive of sympathetic pathway injury early in life. Such signs should prompt further diagnostic evaluation to demonstrate the presence of the agenesis of the carotid canal. Early diagnosis is essential to rule out potentially life-threatening associated vascular anomalies.Keywords: carotid artery agenesis, Horner’s syndrome, heterochromia iridum

  10. Right pulmonary artery agenesis presenting with uncontrolled asthma in an adult: a case report

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    Thammasitboon Supat

    2011-08-01

    Full Text Available Abstract Introduction Unilateral absence of the pulmonary artery (UAPA or pulmonary artery agenesis is a rare congenital disorder presenting with a wide spectrum of symptoms. The clinical presentation is variable and many patients can be asymptomatic for many years and even throughout their lives. Case presentation We report the case of a 53-year-old African-American woman who was diagnosed with right pulmonary artery agenesis after presenting with uncontrolled asthma and recurrent bronchopulmonary infections. Conclusion In an unexplained case of recurrent respiratory infections and shortness of breath, the possibility of a rare congenital anomaly like UAPA should be considered and an appropriate evaluation should be done.

  11. Adult presentation of right lung agenesis and left pulmonary artery sling.

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    Espinosa, L; Agarwal, P

    2008-02-01

    The combination of right lung agenesis and left pulmonary artery (LPA) sling is a rare entity that has been described only in the pediatric population. Cross-sectional imaging modalities such as magnetic resonance imaging (MRI) and computed tomography (CT) have an advantage over echocardiography and pulmonary angiography in demonstrating the anomalous left pulmonary artery, particularly in the presence of coexisting lung agenesis, as exemplified in this case. We report the first case of this rare entity in an adult. It is important to be aware that this abnormality, though rare, can present even in adulthood, and therefore close attention should be paid to the course of the pulmonary artery to ensure detection of a sling in association with lung agenesis.

  12. Adult Presentation of Right Lung Agenesis and Left Pulmonary Artery Sling

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    Espinosa, L.; Agarwal, P. (Div. of Cardiothoracic Radiology, Dept. of Radiology, Univ. of Michigan, Ann Arbor, MI (US))

    2008-02-15

    The combination of right lung agenesis and left pulmonary artery (LPA) sling is a rare entity that has been described only in the pediatric population. Cross-sectional imaging modalities such as magnetic resonance imaging (MRI) and computed tomography (CT) have an advantage over echocardiography and pulmonary angiography in demonstrating the anomalous left pulmonary artery, particularly in the presence of coexisting lung agenesis, as exemplified in this case. We report the first case of this rare entity in an adult. It is important to be aware that this abnormality, though rare, can present even in adulthood, and therefore close attention should be paid to the course of the pulmonary artery to ensure detection of a sling in association with lung agenesis

  13. Imaging features of isolated unilateral pulmonary artery agenesis presenting in adulthood: a review of four cases

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    Griffin, N. [Royal Brompton and Harefield NHS Trust, London (United Kingdom)]. E-mail: nyreegriffin@hotmail.com; Mansfield, L. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Redmond, K.C. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Dusmet, M. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Goldstraw, P. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Mittal, T.K. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Padley, S. [Royal Brompton and Harefield NHS Trust, London (United Kingdom)

    2007-03-15

    Aim: To highlight the variation in clinical manifestations, imaging and management of four cases of unilateral pulmonary artery agenesis presenting in adulthood. Method: Four patients with unilateral pulmonary artery agenesis were referred to our institution between 1995 and 2005. They underwent a series of investigations, including chest radiography, echocardiography, ventilation perfusion scintigraphy, angiography, computed tomography (CT) and magnetic resonance imaging (MRI). Results: Two of the four patients had absence of the right main pulmonary artery, whilst the remaining two patients had absence of the left main pulmonary artery. One patient showed a restrictive defect on pulmonary function tests. Two patients who had ventilation perfusion scintigraphy showed absent perfusion and reduced ventilation on the affected side. Angiography (where performed), CT and MRI confirmed the anatomy and the presence of multiple collaterals. Bronchiectasis was demonstrated on CT in two patients, with one also demonstrating a mosaic attenuation pattern. One patient had an incidental lung tumour on the side of the agenesis, which was diagnosed as a chondroid hamartoma on histology. Three of the four patients eventually underwent resection of the affected lung. Conclusion: Isolated unilateral pulmonary artery agenesis has a non-specific presentation. Awareness of this condition can lead to earlier diagnosis, with cross-sectional imaging making an important contribution.

  14. A case of corpus callosum agenesis presenting with recurrent brief depression

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    Bhattacharyya Ranjan

    2009-01-01

    Full Text Available Agenesis of corpus callosum can have various neuropsychiatric manifestations. Following case report highlights the case of a young man presenting with features of recurrent brief depressive disorder, each lasting for about 3 to 7 days, for over a year. He had history of occasional headache and episodes of swooning attack in between, usually precipitated by emotional events. His neuroimaging revealed agenesis of corpus callosum. He was experiencing swooning attacks as he became aware that some ′unusual′ findings were present in his reports. Recurrent brief depression can be a manifestation of this congenital anomaly, and conversion disorder can be present as comorbid diagnosis perhaps due to ignorance and fear of this apparently innocuous congenital malformation.

  15. A Case of Distal Vaginal Agenesis Presenting with Recurrent Urinary Tract Infection and Pyuria in a Prepubertal Girl.

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    Dural, Ozlem; Ugurlucan, Funda Gungor; Yasa, Cenk; Bastu, Ercan; Eren, Hulya; Yuksel, Bahar; Celik, Serdal; Akhan, Suleyman Engin

    2017-02-01

    Isolated distal vaginal agenesis is a rare anomaly and mostly becomes symptomatic after menarche. We describe an unusual presentation of this anomaly in a prepubertal girl. An 11-year-old prepubertal girl presented with recurrent urinary tract infection, pyuria, and right-sided renal agenesis. The findings of perineal inspection, ultrasonography, and magnetic resonance imaging were consistent with a distal vaginal agenesis with pyometrocolpos. Discharging pyometrocolpos with dissection of the atretic portion and a pull-through vaginoplasty were performed. A cystoscopy showed no sign of a vesicovaginal or uterine fistula. This rare presentation of distal vaginal agenesis reminds us that congenital malformations of the female genital tract should be considered in patients with congenital anomalies of the urinary system and/or recurrent urinary tract infection, even during the prepubertal period. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  16. Lumbosacral agenesis in a cat

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    Gabrielle C Hybki

    2016-01-01

    Full Text Available Case summary Lumbosacral agenesis is a rare congenital condition reported in children. We report a 17-week-old female domestic shorthair cat with lumbosacral agenesis on whole-body radiographs. The cat was euthanized shortly thereafter presentation. A necropsy was not permitted. Relevance and novel information This is the first reported feline case of lumbosacral agenesis.

  17. Unilateral pulmonary agenesis.

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    Malcon, Maura Cavada; Malcon, Claudio Mattar; Cavada, Marina Neves; Caruso, Paulo Eduardo Macedo; Real, Lara Flório

    2012-01-01

    Pulmonary agenesis is a rare congenital anomaly. We report the case of an 8-year-old boy with left lung agenesis, without any other congenital malformations. When the patient presented symptoms, including cough, wheezing, and dyspnea, with no clinical improvement after a period of 30 days, imaging studies were conducted and the diagnosis was made.

  18. Neurological presentations, imaging, and associated anomalies in 50 patients with sacral agenesis.

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    Emami-Naeini, Parisa; Rahbar, Ziba; Nejat, Farideh; Kajbafzadeh, Abdolmohammad; El Khashab, Mostafa

    2010-10-01

    Sacral agenesis is an uncommon congenital disorder that involves multiple organs. We studied neurological manifestations of the disease, common associated disorders, and their relation with extent of bony malformation. We investigated neurological manifestations of 50 patients with sacral agenesis. Patients were evaluated for previous procedures, ambulation, limb abnormalities, vertebral alignment, recurrent urinary tract infection, urinary incontinence, dribbling, dimple, lower extremities weakness, myelomeningocele (MMC), and lipomyelomenangocele. Weakness of lower extremities was seen in 37 (74%) patients. Concurrent weakness of proximal and distal muscles of the lower limb was statistically associated with a type of bony aplasia (P = .001). However, paraplegia was seen in only 2 of 44 children over the age of 1, and the rest could walk. Myelodysplastic syndromes were seen in 21 patients. Sacral agenesis is diagnosed in children with concomitant MMC at younger ages and reveals more severe symptoms. Progression of neurological disorders was seen in 19 patients, in all of whom MRI showed tethering of the spinal cord. Urinary disorders including diurnal urinary incontinence (in 30 of 35 children over age 4) and recurrent urinary tract infections (in 37) were also common. Imperforate anus was seen in 11 patients. Twelve children over age 4 reported fecal incontinence, a problem that had statistically significant association with imperforate anus (P = .013). Different disorders can concurrently affect patients with sacral agenesis that may have profound impressions on patients and their families. Early diagnosis, thorough evaluation, and proper intervention are of utmost importance as they can prevent or lessen future complications.

  19. A rare case of Turner′s syndrome presenting with Mullerian agenesis

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    Suresh Vaddadi

    2013-01-01

    Full Text Available Turner′s syndrome also called as Ullrich Turner′s syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature. Various anomalies result in a constellation of features, of which the most disturbing is primary amenorrhea due to gonadal dysgenesis. Hormone therapy in these patients can often result in successful menstruation, and scope for subsequent pregnancy because of anatomically normal uterus and vagina. Coexisting Mullerian agenesis in these patients can jeopardize the chances of future pregnancy as they have associated structural abnormalities of the uterus and vagina. We report a rare case of middle-aged female with Turner′s syndrome and Mullerian agenesis having absent secondary sexual characters and missing uterus with incompletely formed vagina.

  20. Pulmonary Agenesis.

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    Chawla, Rakesh K; Madan, Arun; Chawla, Aditya; Arora, Harsh Nandini; Chawla, Kiran

    2015-01-01

    Unilateral opaque lung with ipsilateral mediastinal shift is an uncommon cause of respiratory distress in newborn which can be found on simple radiograph of the chest. Pulmonary agenesis is a rare cause of unilateral opaque lung in the newborn. Nearly 50% cases of pulmonary agenesis are associated with other congenital defects including cardiovascular, skeletal, gastrointestinal or genitourinary systems. We report an infant with agenesis of the right lung associated with other congenital anomalies.

  1. Right lung agenesis

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    Kumar B

    2008-01-01

    Full Text Available Congenital pulmonary agenesis or aplasia is extremely rare. Although more than fifty percent of patients die before first five years of age, some individuals may remain asymptomatic throughout their life. A three-month-old female child with right pulmonary agenesis presented to us with severe respiratory distress. She was misdiagnosed as a case of foreign body bronchus at the peripheral health centre. Bronchoscopy confirmed the diagnosis and relieved the symptoms. It is recommended that invasive diagnostic procedures and prophylactic surgery should not be done in asymptomatic cases.

  2. A RARE AND ATYPICAL MULLERIAN ANOMALY WITH DUPLICATION AND AGENESIS WITHOUT ANY PRESENT CLASSIFICATION

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    Punit

    2014-10-01

    Full Text Available A 29 year old unmarried woman with primary amenorrhea consulted her doctor. On further questioning the patient complained of monthly cyclical severe pain abdomen for 2-3 days which was relieved only after administration of injectable pain killers like tramadol. She also gave history of vaginoplasty done 8 years back. On examination the patient was of thin built and her secondary sexual characters were well developed. Her per abdominal examination was normal. On per vaginal examination cervix and uterus was not felt and vaginal length was 3 cm. On per rectal examination also uterus was not felt. She was sent for ultrasound examination that showed two separate uteri with fundus and body but no cervix, both ovaries were present. After routine work up and investigations patient was put up for laparotomy, right sided hysterectomy with salpingo-oophorectomy and left sided hysterectomy with removal of fallopian tube done while left ovary was preserved. Thus, a rarest anomaly of mullerian system was reveled and managed leading to freedom of patient of her monthly cyclical severe abdominal pain.

  3. Pulmonary agenesis: two cases reported

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    Denis Yaraví Solano-Vázquez

    2014-11-01

    Full Text Available Background: Pulmonary agenesis is a rare anomaly (1 in 15 000 live births which consists in a total absence or severe hypoplasia of one or both lungs. The clinical spectrum of the unilateral agenesis could vary from early and severe respiratory distress, recurrent pneumonia to being an incidental finding. The prognosis is based on the presence of associated congenital abnormalities. Material and methods: We present two cases of unilateral pulmonary agenesis in patients at Tlaxcala’s Children Hospital during 2012. Results: Report details the case of a one-month old boy with left pulmonary agenesis and interatrial communication and mild pulmonary arterial hypertension. He had two resolved pneumonia incidents. The other case was a one-month old girl with right pulmonary agenesis, associated to multiple heart malformations who evolved to respiratory failure, heart failure and death.Conclusions: Pulmonary agenesis is a rare anomaly. Its outcome and prognosis varies with the hemodynamics related to its location and associated malformations.

  4. Unilateral Pulmonary Agenesis and Gastric Duplication Cyst: A Rare Association

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    Amir Halilbasic; Fahrija Skokic; Nesad Hotic; Edin Husaric; Gordana Radoja; Selma Muratovic; Nermina Dedic; Meliha Halilbasic

    2013-01-01

    Lung agenesis and gastric duplication cysts are both rare congenital anomalies. Gastric duplication cysts can present with nausea, vomiting, hematemesis, or vague abdominal pain. Unilateral pulmonary agenesis can present with respiratory distress which usually occurs due to retention of bronchial secretions and inflammations. We report the unique case of right pulmonary agenesis associated with gastric duplication cyst.

  5. Unilateral Pulmonary Agenesis and Gastric Duplication Cyst: A Rare Association

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    Amir Halilbasic

    2013-01-01

    Full Text Available Lung agenesis and gastric duplication cysts are both rare congenital anomalies. Gastric duplication cysts can present with nausea, vomiting, hematemesis, or vague abdominal pain. Unilateral pulmonary agenesis can present with respiratory distress which usually occurs due to retention of bronchial secretions and inflammations. We report the unique case of right pulmonary agenesis associated with gastric duplication cyst.

  6. Right-to-left interatrial shunt secondary to right hemidiaphragmatic paralysis: an unusual scenario for urgent percutaneous closure of patent foramen ovale.

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    Fabris, Tommaso; Buja, Paolo; Cucchini, Umberto; D'Amico, Gianpiero; Cazzuffi, Riccardo; Balestro, Elisabetta; Tarantini, Giuseppe

    2015-04-01

    A 66 year-old female presented with a refractory hypoxaemia in association with an isolated paralysis of the right hemidiaphragm. Transoesophageal echocardiography (TEE) with both colour Doppler and bubble test demonstrated a significant patent foramen ovale (PFO)-mediated right-to-left shunt (RTLS) without an increased interatrial pressure gradient. The PFO was urgently closed by deployment of an AMPLATZER(®) occluder device, resulting in complete recovery of the arterial oxygen saturation and patient's symptoms. As noted on TEE, the RTLS was due to redirection of blood flow from the inferior vena cava directly through the PFO secondary to distortion of the cardiac anatomy by right hemidiaphragmatic paralysis.

  7. Defining subphenotypes for tooth agenesis: does side matter?

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    Costa, Marcelo de Castro; Küchler, Erika Calvano; Filho, Paulo Ferreira Garcia; Modesto, Adriana; Vieira, Alexandre Rezende

    2009-01-01

    The etiology of tooth agenesis is still poorly understood. The identification of sub-populations with specific types of hypodontia (subphenotypes) would allow testing the specific hypothesis that certain genetic factors contribute to the specific subphenotype. The aim of this work was assessing a large cohort to verify if preferential tooth agenesis subphenotypes could be identified. Panoramic radiographs of 1052 cases were examined and 1034 were used in this study. The presence of tooth agenesis was assessed in the study population. The frequency of tooth agenesis in the studied population was 3.77%. While bilateral cases did not differ in the frequency of agenesis by arch (p = 0.8), unilateral cases presented more commonly agenesis on the mandibular arch (p = 0.03). This result was clearly driven by the frequency of second premolar agenesis, which was the most common absent tooth in the studied population. Unilateral lower second premolar agenesis was found more often than bilateral agenesis (p = 0.047). Our findings that unilateral lower second premolar agenesis is more common than bilateral agenesis, with a trend for unilateral agenesis being more common on the right side may suggest specific genetic factors may be differentially expressed depending on the side.

  8. Gallbladder Agenesis with Refractory Choledocholithiasis

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    Jamie Tjaden

    2015-01-01

    Full Text Available Congenital agenesis of the gallbladder is a rare anomaly which is usually asymptomatic and found incidentally. In some cases, however, patients are symptomatic. Common symptoms include right upper quadrant abdominal pain, nausea, and vomiting. Jaundice is present in some symptomatic cases and is due to associated choledocholithiasis (Fiaschetti et al. 2009. In this case, a 63-year-old female presents with jaundice and episodic right upper quadrant abdominal pain with nausea and vomiting. Bilirubin and alkaline phosphatase were found to be markedly elevated. Upper endoscopic ultrasound (EUS revealed choledocholithiasis, and the patient required multiple endoscopic retrograde cholangiopancreatography (ERCP sessions before successful extraction of all stones. Subsequent surgical exploration revealed congenital agenesis of the gallbladder. Although this is a rare finding, patients with agenesis of the gallbladder are at increased risk of developing de novo choledocholithiasis which may be challenging to extract.

  9. Scimitar syndrome with renal agenesis

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    Hasan Kahraman

    2012-01-01

    Full Text Available Partial pulmonary venous connection anomaly is relatively uncommon form of congenital heart diseases. The quite rare combination of this anomaly with hypoplasia of the right lung and dextroposition of the heart is designated as scimitar syndrome. Most cases are presented in infantile period and adult presentation is exceedingly rare. Our patient, a 38-year-old man, was admitted to a doctor with flu-like complaint and because of abnormalities on chest X-ray he was sent to our clinic. He did not have any chronic complaints such as shortness of breath and fatigue. After investigation, scimitar syndrome was diagnosed. Left renal agenesis was determined with abdominal examination. Best of our knowledge in literature we did not detect any case both with Scimitar syndrome and renal agenesis, and we wanted to report the asymptomatic adult Scimitar syndrome case with left renal agenesis.

  10. Accessory hepatic lobe simulating a left hemidiaphragmatic tumor. A case report

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    Kuroiwa, Toshiro; Hirata, Hitoshi; Iwashita, Akinori; Yasumori, Kotaro; Mogami, Hiroshi; Teraoka, Hiroaki (Matsuyama Red Cross Hospital (Japan))

    1984-08-01

    A 72-year-old woman with a 20-year history of neuralgia was confirmed at surgery to have a tumor in the left hemidiaphragmatic region which was connected with the left lobe of the liver. Reassessment of radiological diagnosis after surgery revealed that hepatobiliary scintigraphy and computed tomography using left anterior oblique scanning are useful in differentiating the accessory hepatic lobe of the liver from a tumor and in confirming the diagnosis, respectively.

  11. Agenesis of the iliac veins.

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    Thomas, M L; Posniak, H V

    1984-01-01

    Three case reports of patients with the rare anomaly of agenesis of the iliac veins are presented. It is emphasised that full phlebographic investigation should be carried out in such patients before surgical treatment is considered. It is pointed out that surgical ablation may exacerbate the symptoms of leg swelling and varicose veins for which the patients seek advice.

  12. CT of tracheal agenesis

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    Strouse, Peter J.; Hernandez, Ramiro J. [C.S. Mott Children' s Hospital, Department of Radiology, Ann Arbor, MI (United States); Newman, Beverley [Children' s Hospital of Pittsburgh, PA (United States). Department of Pediatric Radiology; Afshani, Ehsan [Children' s Hospital of Buffalo, NY (United States). Departments of Radiology and Pediatrics; Bommaraju, Mahesh [Women' s and Children' s Hospital of Buffalo, Division of Neonatology, University Pediatrics Associates, Buffalo, NY (United States)

    2006-09-15

    Tracheal agenesis is a rare and usually lethal anomaly. In the past, opaque contrast medium was injected via the esophagus to demonstrate the anatomy. To demonstrate the utility of helical and multidetector CT in delineating the aberrant anatomy in newborns with tracheal agenesis. Four newborns with tracheal agenesis were identified from three institutions. Imaging studies and medical records were reviewed. Each child was imaged with chest radiography. One child was imaged on a single-detector helical CT scanner and the other three on multidetector scanners. Helical and multidetector CT with 2D and 3D reconstructions clearly delineated the aberrant tracheobronchial and esophageal anatomy in each infant. Minimum intensity projection reformatted CT images were particularly helpful. One infant each had type I and type II tracheal agenesis. Two infants had type III tracheal agenesis. All four infants died. CT is a useful tool for delineating the aberrant anatomy of newborns with tracheal agenesis and thus helps in making rational clinical decisions. (orig.)

  13. Agenesis of pancreas

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    Voldsgaard, P; Kryger-Baggesen, N; Lisse, I

    1994-01-01

    Complete agenesis of pancreas is a rare and lethal condition. Four cases have previously been reported in combination with other malformations, such as severe intrauterine growth retardation, hyperglycaemia and meconium ileus. We report a case of pancreatic agenesis as a single anomaly. The child...

  14. Unilateral right pulmonary agenesis in adulthood.

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    Gunbey, Hediye Pinar; Gunbey, Emre; Sayit, Asli Tanrivermis; Bulut, Taner

    2014-06-01

    Congenital malformations of the lung, which may vary in degrees of severity, are very rare diseases. Pulmonary artery agenesis is a rare anomaly that may occur during the early involution of the proximal portions of the sixth aortic arch, during embryological development of the heart. This agenesis may be accompained by a complete or partial absence of the lung and its bronchus on the same side, which is diagnosed as pulmonary agenesis. In the great majority of the cases, the diagnosis is usually made at or soon after birth and it can be associated with multiple anomalies. However, extremely rare asymptomatic cases may go unnoticed until adulthood. We are presenting a patient with unilateral right pulmonary agenesis, who survived through adulthood without any symptoms and other congenital anomalies. The multislice computed tomography findings and differential diagnoses have been discussed.

  15. Complete agenesis of dorsal pancreas

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    Malwinder Singh

    2014-04-01

    Full Text Available Introduction: Complete agenesis of body and tail of pancreas is a very rare type of developmental anomaly of pancreas. It is important regarding its presentations of diabetes mellitus, pancreatitis, and exocrine insufficiency. Case Report: An old man had presented with atypical symptoms of obstructive jaundice with exocrine insufficiency. CECT helped to reveal the complete absence of the body and tail of pancreas with radiologically normal head with no signs of pancreatitis or mass lesion. Conclusions: The cause of agenesis of the dorsal pancreas is currently not well understood. It can also present lately as the presenting case. The presentations are usually related to secretory malfunctions. CECT is an initial investigation for diagnosis

  16. Delusional Disorder in a Patient with Corpus Callosum Agenesis

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    Bhatia, M. S.; Saha, Rashmita; Doval, Nimisha

    2016-01-01

    Agenesis of corpus callosum is rare and associated neuropsychiatric abnormalities reported are epilepsy, Asperger’s syndrome, learning problems, depression, schizophrenia, conduct disorder and conversion symptoms. Schizophrenia is the most common psychiatric disorder reported among corpus callosum agenesis. We report a rare case of delusional disorder with corpus callosum agenesis and seizure disorder. The patient presented with delusions of persecution towards younger brother and mother, dis...

  17. Delusional Disorder in a Patient with Corpus Callosum Agenesis.

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    Bhatia, M S; Saha, Rashmita; Doval, Nimisha

    2016-12-01

    Agenesis of corpus callosum is rare and associated neuropsychiatric abnormalities reported are epilepsy, Asperger's syndrome, learning problems, depression, schizophrenia, conduct disorder and conversion symptoms. Schizophrenia is the most common psychiatric disorder reported among corpus callosum agenesis. We report a rare case of delusional disorder with corpus callosum agenesis and seizure disorder. The patient presented with delusions of persecution towards younger brother and mother, disturbed sleep and reduced appetite. She had a history of seizure disorder of ten years duration, which was controlled with carbamazepine and levetiracetam. Neurological examination was normal. On MRI, corpus callosum agenesis was detected. She was put on an atypical antipsychotic quetiapine to which her psychiatric symptoms responded completely.

  18. Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome.

    Science.gov (United States)

    Takci, S; Yigit, S; Haliloglu, M; Boduroglu, K; Kiper, N

    2013-01-01

    Pulmonary agenesis is a rare congenital anomaly presenting with normal karyotype in most of the cases. Rarely pulmonary agenesis is associated with chromosomal abnormalities and other genetic disorders such as Oculo-auriculo-vertebral spectrum, VACTERL association and velo-cardio-facial syndrome. This report presents a patient with pulmonary agenesis, pulmonary sling anomaly and Down syndrome.

  19. Clinical relevance of palmaris longus agenesis: common anatomical aberration.

    Science.gov (United States)

    Kapoor, Sudhir K; Tiwari, Akshay; Kumar, Abhishek; Bhatia, Rajesh; Tantuway, Vinay; Kapoor, Saurabh

    2008-03-01

    Palmaris longus muscle, although of little functional use to the human upper limb, assumes great importance when used as a donor tendon for transfer or transplant. The variability in the prevalence of palmaris longus agenesis among various ethnic groups has been established, and the surgeon's awareness of the prevalence in a population or ethnic group is desirable. The prevalence of palmaris longus agenesis has, to the best of the authors' knowledge, not been reported in Indian patients. Five hundred Indian patients were examined for the presence or absence of palmaris longus tendon, using the conventional test for presence of palmaris longus. The prevalence and pattern of palmaris longus agenesis was analyzed statistically and any difference in prevalence or pattern of palmaris longus agenesis with regard to body side or sex was looked for. All statistical analysis was done using SPSS (version 12). chi2 test was used to analyze the association of agenesis with limb laterality and sex. The prevalence of palmaris longus agenesis was found to be 17.2% (8% bilateral and 9.2% unilateral). The prevalence of agenesis was significantly more common on the left side. Male subjects had a greater likelihood of unilateral agenesis, while female subjects were more likely to have bilateral agenesis. That prevalence of palmaris longus agenesis is race dependent is reaffirmed in the present study. Although the prevalence of palmaris longus agenesis in Indian patients was found to be much higher than the reported average prevalence in an Asian population, this tendon can still be counted on by surgeons treating Indian patients for use as a donor tendon, which will be present in a vast majority of Indian patients.

  20. Congenital Agenesis of the Left Lung: A Rare Case

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    Tülin Durgun Yetim

    2011-01-01

    Full Text Available Pulmonary agenesis is a rare congenital anomaly, the etiology of which is not clearly known. Other systemic comorbidities such as cardiovascular, gastrointestinal, musculoskeletal, and urogenital system anomalies can be observed in more than half of the patients. It is usually diagnosed during childhood. Diagnosis in adulthood is very rare. We present a case of pulmonary agenesis diagnosed in an adult.

  1. Agenesis of dorsal pancreas associated with periampullary pancreaticobiliary type adenocarcinoma.

    Science.gov (United States)

    Sannappa, Raghu M; Buragohain, Jadunath; Sarma, Dipti; Saikia, Uma Kaimal; Choudhury, Bipul Kumar

    2014-09-28

    Agenesis of the dorsal pancreas is one of the rare congenital malformations of pancreas. The association of agenesis of the dorsal pancreas with pancreatic tumors is extremely rare and only around 9 cases being reported till date. We report a case of a fifty one year old woman with an agenesis of the dorsal pancreas with periampullary pancreaticobiliary adenocarcinoma. She presented with features of obstructive jaundice without pain abdomen or fever. Laboratory data showed conjugated hyperbilirubinemia, raised alkaline phosphatase and impaired glucose tolerance. Ultrasound abdomen showed periampullary mass. MRI abdomen and MRCP demonstrated dorsal agenesis of the pancreas, dilated intra and extra hepatic bile ducts with narrowing of distal CBD with periampullary mass. Pancreatic tumor was considered as preoperative diagnosis, and pancreaticoduodenectomy was performed. Histopathology confirmed pancreaticobiliary type of adenocarcinoma. A rare case of dorsal agenesis of the pancreas with periampullary pancreaticobiliary type of adenocarcinoma was presented. Therefore this case therefore merits reference as a rare clinical presentation.

  2. A case of congenital agenesis of the right pulmonary artery presenting with hemoptysis and mimicking pulmonary hemosiderosis.

    Science.gov (United States)

    Simsek, Pelin Ozlem; Ozcelik, Ugur; Celiker, Alpay; Yalcin, Ebru; Cobanoglu, Nazan; Pekcan, Sevgi; Alehan, Dursun; Ucar, Canan; Dogru, Deniz; Kiper, Nural

    2009-02-01

    Congenital unilateral absence of a pulmonary artery is a rare anomaly most frequently accompanied by other cardiovascular anomalies. We report a 10-year-old girl presenting with fatigue and recurrent hemoptysis who was initially misdiagnosed with idiopathic pulmonary hemosiderosis. Her symptoms did not resolve despite treatment so she was referred to our center for further evaluation. We carried out an angiography which revealed the absence of the right pulmonary artery and multiple collaterals originating from the right subclavian and right internal mammary arteries supplying the right lung. During the follow-up the patient developed a severe episode of pulmonary infection and pulmonary hypertension which responded well to medical treatment. Physicians should be aware of the congenital absence of the right pulmonary artery especially in patients presenting with recurrent respiratory symptoms. Although this condition is generally considered to have a good prognosis, close observation is mandatory in order to prevent further complications and comorbidities.

  3. Pulmonary agenesis and respiratory failure in childhood.

    Science.gov (United States)

    Dinamarco, Paula Vanessa Valverde; Ponce, Cesar Cilento

    2015-01-01

    Pulmonary agenesis (PA) is a rare congenital anomaly, which may be unilateral or bilateral. Unilateral PA may be associated with nonspecific respiratory symptoms. We report the case of 5-month-old infant who presented a normal development until the age of 4 months when a respiratory infection caused an acute respiratory distress syndrome with a fatal outcome. The autopsy findings depicted the right lung agenesis without any other concomitant malformation. Although respiratory symptoms represent frequent complaints in pediatrics, the aim of this study is not only to draw attention to the unilateral pulmonary agenesis as a possible underlying malformation in children who present recurrent and severe respiratory symptoms, but also to report a case diagnosed at autopsy.

  4. Pulmonary agenesis and respiratory failure in childhood

    Directory of Open Access Journals (Sweden)

    Paula Vanessa Valverde Dinamarco

    2015-03-01

    Full Text Available Pulmonary agenesis (PA is a rare congenital anomaly, which may be unilateral or bilateral. Unilateral PA may be associated with nonspecific respiratory symptoms. We report the case of 5-month-old infant who presented a normal development until the age of 4 months when a respiratory infection caused an acute respiratory distress syndrome with a fatal outcome. The autopsy findings depicted the right lung agenesis without any other concomitant malformation. Although respiratory symptoms represent frequent complaints in pediatrics, the aim of this study is not only to draw attention to the unilateral pulmonary agenesis as a possible underlying malformation in children who present recurrent and severe respiratory symptoms, but also to report a case diagnosed at autopsy.

  5. Unilateral lung agenesis--detrimental roles of surrounding vessels.

    Science.gov (United States)

    Chou, An-Kou; Huang, Shu-Chien; Chen, Shyh-Jye; Huang, Pei-Ming; Wang, Jou-Kou; Wu, Mei-Hwan; Chen, Yih-Sharng; Chang, Chung-I; Chiu, Ing-Sh; Wu, En-Ting

    2007-03-01

    Unilateral lung agenesis is a rare congenital defect and could be associated with multiple abnormalities. The patients usually have poor long-term outcomes especially in those with right lung agenesis. We reviewed the 10-year experience in our hospital to describe special clinical features and try to delineate the causes of poor outcomes. From 1995 to 2005, 14 patients less than 18 years of age with unilateral lung agenesis (4 with left agenesis, 10 with right agenesis) were enrolled. Medical records reviewed included diagnosis, presentation, chromosome anomalies, cardiovascular anomalies and interventions, outcomes. We found that the mechanisms of severe airway disease in right lung agenesis included (1) trachea compression by the aortic arch, (2) the presence of "pseudo-ring-sling complex," (3) distended pulmonary artery due to left to right shunt which impinged the only bronchus, and finally (4) the persistent LSVC that restricts the growth of trachea. The etiologies of airway complication in left lung agenesis included anomalous aortic arch compression on trachea and the coexisting heart disease with significant left to right shunt, which impinged on the bronchus. In conclusion, unilateral lung agenesis has frequently associated airway problems due to its surrounding vessels. Satisfactory airway intervention remains challenging. This disease still requires great effort to improve patient outcomes.

  6. Two cases of sacral agenesis

    Energy Technology Data Exchange (ETDEWEB)

    Choi, J. Y.; Bae, Y. K.; Hahm, C. K.; Kang, S. R. [Hanyang University College of Medicine, Seoul (Korea, Republic of)

    1979-06-15

    Sacral agenesis is a central component in the spectrum of anomalies comprising the caudal regression syndrome. Sacral agenesis occurs more frequently in an infant born to mother of diabetes, rubella infection in first trimester than normal mothers. In a patient of sacral agenesis, it is important to recognize the neurologic deficit, neurogenic bladder dysfunction and other congenital anomalies. A case of partial sacral agenesis of 10 years old girl and another case of complete total agenesis associated with multiple anomalies in autopsied newborn are reported.

  7. Isolated Bilateral Congenital Iris Sphincter Agenesis

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    Aparna Rao

    2011-01-01

    Full Text Available Purpose. We herein report a patient with bilateral congenital total iris sphincter agenesis with no other abnormality detected on systemic examination. Methods. A 24-year-old laborer presented to us for a routine checkup with complaint of photophobia and inability to work under sunlight. Examination revealed bilateral absence of sphincter and 6.5 mm pupil in both eyes in the undilated state. Results. Accommodation was poor in both eyes. Systemic examination was within normal limits. He was prescribed bifocal photochromic glasses for constant wear. Conclusions. Congenital sphincter agenesis can occur in an isolated form without systemic abnormalities which can be managed conservatively.

  8. Gallbladder agenesis in a Chihuahua.

    Science.gov (United States)

    Kamishina, Hiroaki; Katayama, Masaaki; Okamura, Yasuhiko; Sasaki, Jun; Chiba, Satoshi; Goryo, Masanobu; Sato, Reeko; Yasuda, Jun

    2010-07-01

    A 4-year-old neutered male Chihuahua was presented with a history of anorexia and vomiting. Continuous elevation of liver enzymes was found on repeated blood examinations and the dog was referred to us for further evaluation. The absence of gallbladder was suspected on ultrasonography. Exploratory laparotomy and retrograde cholangiography confirmed gallbladder agenesis and a possible hypoplasia of the right medial and lateral liver lobes. Histologically, proliferation of bile ductules associated with portal fibrosis and pseudolobular formation were apparent in the liver lobes.

  9. Callosal agenesis and Open lip Schizencephaly.

    Science.gov (United States)

    Prasad, Maya; Iype, Mary; Nair, P M C

    2006-09-01

    We report a case of a new born who presented with neonatal seizures; and who had coexistence of a Corpus Callosum Agenesis with a bilateral Open lip Schizencephaly and a Dandy Walker malformation. The investigations for an underlying etiology, however was futile.

  10. Association of pulmonary artery agenesis and hypoplasia of the lung.

    Science.gov (United States)

    Vitiello, Renato; Pisanti, Chiara; Pisanti, Antonello; Silberbach, Michael

    2006-09-01

    Pulmonary artery agenesis and hypoplasia of the homolateral lung occasionally occurs as an isolated lesion, but more often has associated congenital cardiac anomalies. We present a case where pulmonary artery agenesis was the sole lesion in an asymptomatic child. Pulmonary artery agenesis should be suspected in asymptomatic patients if a plain chest X-ray shows asymmetric lung fields, lung hypoplasia, or hyperinflation of the contralateral lung. Echocardiography is the best tool to establish the diagnosis. In our opinion, invasive procedures, such as cardiac catheterization, may be postponed if there is no echocardiographic evidence of pulmonary hypertension.

  11. Unilateral Maxillary Canine Agenesis: A Case Report and Literature Review

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    Nagihan Koç

    2014-01-01

    Full Text Available Congenital absence of maxillary permanent canines is an extremely rare condition, which may appear as part of a syndrome or as a nonsyndromic form. Nonsyndromic canine agenesis combined with other types of tooth agenesis has occasionally been described in the literature but isolated cases are rarely observed. This report presents an isolated case of maxillary permanent canine agenesis in a healthy 18-year-old female patient and a literature review on the prevalence, etiology, and differential diagnosis of the condition.

  12. [Left pulmonary agenesis diagnosed late].

    Science.gov (United States)

    Deleanu, Oana; Pătraşcu, Natalia; Nebunoiu, Ana-Maria; Vintilă, V; Ulmeanu, Ruxandra; Mihălţan, F D

    2010-01-01

    We present the case of a 51 years old female-patient, with severe dextroscoliosis, having like unique symptom progressive dyspnea. The blood samples reveals polycythemia, the radiological exam shows the opacification of 2/3 of the left thorax, the absence of the lung structure in the other 1/3, the deviation of the mediastinum, and dextroscoliosis; the computed tomography reveals the absence of the left lung artery and the left airways, compensatory hyperinflation of the right lung and dilatation of the trunk and right pulmonary artery; the bronchoscopy does not visualize the carina or the left main bronchus, typical for pulmonary agenesis. Echocardiography confirmed the absence of left pulmonary artery and shows mild pulmonary hypertension (systolic pressure in the pulmonary artery of 33 mmHg) with dilatation of the right cavities, but good cinetics. We face a case of pulmonary agenesis lately diagnosed, with modest functional cardiologic implications, limited therapeutic options and good survival, justified by the late appearance of the pulmonary hypertension of low severity and without worsening in time.

  13. Postmortem MRI of bladder agenesis

    Energy Technology Data Exchange (ETDEWEB)

    Barber, Brendan R. [St George' s Hospital, Radiology Department, London (United Kingdom); Weber, Martin A. [Great Ormond Street Hospital for Children, Department of Histopathology, London (United Kingdom); Bockenhauer, Detlef [Great Ormond Street Hospital for Children, Department of Nephrology, London (United Kingdom); Hiorns, Melanie P.; McHugh, Kieran [Great Ormond Street Hospital for Children, Radiology Department, London (United Kingdom)

    2011-01-15

    We report a 35-week preterm neonate with bladder agenesis and bilateral dysplastic kidneys. A suprapubic catheter was inadvertently inserted into one of the larger inferior cysts of the left dysplastic kidney. A postmortem MRI scan was performed with the findings being confirmed on autopsy. We are unaware of another postmortem MRI study demonstrating bladder agenesis. (orig.)

  14. Isolated Left Pulmonary Artery Agenesis: A Case Report

    OpenAIRE

    Tansel Ansal Balcı; Zehra Pınar Koç; Gamze Kırkıl; Ahmet Kürşad Poyraz

    2012-01-01

    Unilateral pulmonary artery agenesis without any cardiovascular malformation is a rare anomaly. We present the imaging findings of a patient who was diagnosed as isolated left pulmonary artery agenesis. A 27-year-old female patient was admitted to our hospital due to dyspnea during exercise for five years. Chest X-ray revealed minimally small left pulmonary hilum and left lung. She was admitted to our clinic with the suspicion of pulmonary artery pathology. Absent perfusion of the left lung w...

  15. Agenesis of all third molars in two half siblings

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    Jamie A Kaufer

    2015-04-01

    Full Text Available Tooth agenesis is one of the most common dental anomalies and is influenced by factors including patient genetics. Although there are several specific genes associated with certain patterns of agenesis, there does not seem to be a genetic pattern identified to date that is associated with isolated complete third molar agenesis. This report presents two half-siblings who both express complete agenesis of third molars despite the fact that their shared parent does not express the same phenotype. The case discussion focuses on addressing the potential genetic possibilities including autosomal dominant inheritance and variable expressivity of a mutation.  There remains an uncertainty to the exact gene involved. Potential options include WNT10A and PAX9. The affected individuals are not needing extractions or experiencing complications due to the presence of third molars.  However, the concern remains that there is the potential for more severe expression of the mutation in future generations.

  16. Isolated Left Pulmonary Artery Agenesis: A Case Report

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    Tansel Ansal Balcı

    2012-08-01

    Full Text Available Unilateral pulmonary artery agenesis without any cardiovascular malformation is a rare anomaly. We present the imaging findings of a patient who was diagnosed as isolated left pulmonary artery agenesis. A 27-year-old female patient was admitted to our hospital due to dyspnea during exercise for five years. Chest X-ray revealed minimally small left pulmonary hilum and left lung. She was admitted to our clinic with the suspicion of pulmonary artery pathology. Absent perfusion of the left lung with normal ventilation was visualized on scintigraphy. MDCT angiography of pulmonary arteries showed absent left main pulmonary artery with systemic collaterals around left hemithorax. Pulmonary artery agenesis can be asymptomatic and isolated until adulthood. Both scintigraphy and CT angiography images of pulmonary artery agenesis of a patient are rare in the literature. Pulmonary ventilation- perfusion scintigraphy can be used not only for pulmonary embolism but also pathologies involving pulmonary artery and its branches. (MIRT 2012;21:80-83

  17. Delusional Disorder in a Patient with Corpus Callosum Agenesis

    Science.gov (United States)

    Saha, Rashmita; Doval, Nimisha

    2016-01-01

    Agenesis of corpus callosum is rare and associated neuropsychiatric abnormalities reported are epilepsy, Asperger’s syndrome, learning problems, depression, schizophrenia, conduct disorder and conversion symptoms. Schizophrenia is the most common psychiatric disorder reported among corpus callosum agenesis. We report a rare case of delusional disorder with corpus callosum agenesis and seizure disorder. The patient presented with delusions of persecution towards younger brother and mother, disturbed sleep and reduced appetite. She had a history of seizure disorder of ten years duration, which was controlled with carbamazepine and levetiracetam. Neurological examination was normal. On MRI, corpus callosum agenesis was detected. She was put on an atypical antipsychotic quetiapine to which her psychiatric symptoms responded completely. PMID:28208982

  18. Ultrasound guidance for brachial plexus block decreases the incidence of complete hemi-diaphragmatic paresis or vascular punctures and improves success rate of brachial plexus nerve block compared with peripheral nerve stimulator in adults

    Institute of Scientific and Technical Information of China (English)

    YUAN Jia-min; YANG Xiao-hu; FU Shu-kun; YUAN Chao-qun; CHEN Kai; LI Jia-yi; LI Quan

    2012-01-01

    Background The use of traditional techniques (such as landmark techniques,paresthesia and peripheral nerve stimulator) for upper-limb anesthesia has often been restricted to the expert or enthusiast,which was blind.Recently,ultrasound (US) has been applied to differ blood vessel,pleura and nerve,thus may reduce the risk of complications while have a high rate of success.The aim of this study was to determine if the use of ultrasound guidance (vs.peripheral nerve stimulator,(PNS)) decreases risk of vascular puncture,risk of hemi-diaphragmatic paresis and risk of Horner syndrome and improves the success rate of nerve block.Methods A search strategy was developed to identify randomized control trials (RCTs) reporting on complications of US and PNS guidance for upper-extremity peripheral nerve blocks (brachial plexus) in adults available through PubMed databases,the Cochrane Central Register of Controlled Trials,Embase databases,SinoMed databases and Wanfang data (date up to 2011-12-20).Two independent reviewers appraised eligible studies and extracted data.Risk ratios (OR)were calculated for each outcome and presented with 95% confidence intervals (CI) with the software of ReviewManager 5.1.0 System (Cochrane Library).Results Sixteen trials involving 1321 adults met our criteria were included for analysis.Blocks performed using US guidance were more likely to be successful (risk ratio (RR) for block success 0.36,95% CI 0.23-0.56,P <0.00001),decreased incidence of vascular puncture during block performance (RR 0.13,95% CI 0.06-0.27,P <0.00001),decreased the risk of complete hemi-diaphragmatic paresis (RR 0.09,95% CI 0.03-0.52,,P=0.0001).Conclusions US decreases risks of complete hemi-diaphragmatic paresis or vascular puncture and improves success rate of brachial plexus nerve block compared with techniques that utilize PNS for nerve localization.Larger studies are needed to determine whether or not the use of US can decrease risk of neurologic complications.

  19. Report of a girl with vacterl syndrome and right pulmonary agenesis.

    Science.gov (United States)

    Avcu, S; Akgun, C; Temel, H; Arslan, S; Akbayram, S; Unal, O

    2009-01-01

    Report of a girl with VACTERL syndrome and right pulmonary agenesis: VACTERL syndrome is a combination of vertebral anomalies (V), anal atresia (A), congenital heart defects (C), tracheo-esophageal fistula (T), esophageal atresia (E), abnormalities of kidneys (renal anomalies, R) and limbs (L). In the present patient right pulmonary agenesis is co-occurring with VACTERL syndrome. We report on this case because the association of right pulmonary agenesis and VACTERL syndrome is rare.

  20. Hypohyperdontia: Agenesis of three third molars and mandibular centrals associated with midline supernumerary tooth in mandible

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    Sivakumar Nuvvula

    2010-01-01

    Full Text Available Agenesis of teeth in a patient who also presents with a supernumerary tooth is one of the rare numerical anomalies in human dentition. Agenesis of third molars was shown to be associated with other missing permanent teeth. A review of literature on hypodontia including third molar agenesis, hyperdontia and a concomitant presence of these two conditions which is termed as hypohyperdontia is presented along with a case showing agenesis of three third molars, both mandibular central incisors and a midline supernumerary tooth.

  1. Dental anomalies in an orthodontic patient population with maxillary lateral incisor agenesis

    Science.gov (United States)

    Citak, Mehmet; Cakici, Elif Bahar; Benkli, Yasin Atakan; Cakici, Fatih; Bektas, Bircan; Buyuk, Suleyman Kutalmış

    2016-01-01

    ABSTRACT Introduction: The purpose of this study was to evaluate the prevalence of dental anomalies in a subpopulation of orthodontic patients with agenesis of maxillary lateral incisors (MLI). Methods: The material of the present study included the records of the 1964 orthodontic patients. Panoramic radiographs and dental casts were used to analyze other associated eight dental anomalies, including agenesis of other teeth, dens invaginatus, dens evaginatus, peg shaped MLI, taurodontism, pulp stone, root dilaceration and maxillary canine impaction. Results: Out of the 1964 patients examined, 90 were found to have agenesis of MLI, representing a prevalence of 4.6%. The most commonly found associated-anomalies were agenesis of other teeth (23.3%), peg-shaped MLIs (15.6%), taurodontism (42.2%), and dilacerated teeth (18.9%). Conclusion: Permanent tooth agenesis, taurodontism, peg-shaped maxillary lateral incisor, and root dilacerations are frequently associated with maxillary lateral incisor agenesis. PMID:28125145

  2. Assessing the proposed association between tooth agenesis and taurodontism in 975 paediatric subjects.

    Science.gov (United States)

    Calvano Küchler, Erika; De Andrade Risso, Patrícia; De Castro Costa, Marcelo; Modesto, Adriana; Vieira, Alexandre Rezende

    2008-05-01

    An association between tooth agenesis and taurodontism has been suggested. The identification of subpopulations with specific associated dental anomalies (subphenotype) would allow testing of the specific hypothesis that certain genetic factors contribute to the specific subphenotype. This work aims to assess a large cohort to verify if the association between tooth agenesis and taurodontism is present. Panoramic radiographs of 1002 patients were examined and 975 were used in this study. The presence of tooth agenesis and taurodontism was assessed in the study population. The frequency of tooth agenesis was 4.6% and the frequency of taurodontism was 1.6%. There were, however, no observations of concomitant tooth agenesis and taurodontism. Our data do not support the hypothesis that isolated tooth agenesis is associated with isolated taurodontism.

  3. Dental anomalies in an orthodontic patient population with maxillary lateral incisor agenesis

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    Mehmet Citak

    Full Text Available ABSTRACT Introduction: The purpose of this study was to evaluate the prevalence of dental anomalies in a subpopulation of orthodontic patients with agenesis of maxillary lateral incisors (MLI. Methods: The material of the present study included the records of the 1964 orthodontic patients. Panoramic radiographs and dental casts were used to analyze other associated eight dental anomalies, including agenesis of other teeth, dens invaginatus, dens evaginatus, peg shaped MLI, taurodontism, pulp stone, root dilaceration and maxillary canine impaction. Results: Out of the 1964 patients examined, 90 were found to have agenesis of MLI, representing a prevalence of 4.6%. The most commonly found associated-anomalies were agenesis of other teeth (23.3%, peg-shaped MLIs (15.6%, taurodontism (42.2%, and dilacerated teeth (18.9%. Conclusion: Permanent tooth agenesis, taurodontism, peg-shaped maxillary lateral incisor, and root dilacerations are frequently associated with maxillary lateral incisor agenesis.

  4. Unitary attention in callosal agenesis.

    Science.gov (United States)

    Dell'acqua, R; Jolicoeur, P; Lassonde, M; Angrilli, A; De Bastiani, P; Pascali, A

    2005-01-01

    The interhemispheric organisation of two specific components of attention was investigated in three patients affected by partial or complete agenesis of the corpus callosum. A visuospatial component of attention was explored using a visual search paradigm in which target and distractors were displayed either unilaterally within a single visual hemifield, or bilaterally across both visual hemifields in light of prior work indicating that split-brain patients were twice as fast to scan bilateral displays compared to unilateral displays. A central component of attention was explored using a psychological refractory period (PRP) paradigm in which two visual stimuli were presented laterally at various stimulus onset asynchronies (SOAs), with each stimulus associated with a different speeded two-alternative choice task. The stimulus-response compatibility in the second task was systematically manipulated in this paradigm, in light of prior work indicating that split-brain patients exhibited a close-to-normal PRP effect (i.e., slowing of the second response as SOA is decreased), with, however, abnormally decreasing effects of the manipulation of the response mapping on the second task speed as SOA was decreased. The present results showed that, although generally slower than normals in carrying out the two tasks, the performance of each of the three acallosal patients was formally equivalent to the performance of a matched control group of normal individuals. In the visual search task, the search rate of the acallosal patients was the same for unilateral and bilateral displays. Furthermore, in the PRP task, there was more mutual interference between the lateralised tasks for the acallosal patients than that evidenced in the performance of the matched control group. It is concluded that the visuospatial component and the central component of attention in agenesis of the corpus callosum are interhemispherically integrated systems.

  5. Agenesis of the dorsal pancreas

    Institute of Scientific and Technical Information of China (English)

    Lale Pasaoglu; Murat Vural; Hatice Gul Hatipoglu; Gokce Tereklioglu; Suha Koparal

    2008-01-01

    Developmental anomalies of the pancreas have been reported but dorsal pancreatic agenesis is an extremely rare entity. We report an asymptomatic 62-year-old woman with complete agenesis of the dorsal pancreas.Abdominal computed tomography (CT) revealed a normal pancreatic head, but pancreatic body and tail were not visualized. Magnetic resonance imaging (MRI)findings were similar to CT. At magnetic resonance cholangiopancreatography (MRCP), the major pancreatic duct was short and the dorsal pancreatic duct was not visualized. The final diagnosis was dorsal pancreatic agenesis.

  6. BICORNUATE UTERUS WITH CERVICAL ATRESIA AND VAGINAL AGENESIS ASSOCIATED WITH OVARIAN ENDOMETRIOSIS - A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Alpana

    2013-06-01

    Full Text Available ABSTRACT: Vaginal agenesis combined with a functional uterus is a rare type of Mullerian duct an omaly. Only 7 – 8% of patients with vaginal agenesis have a functional uterus. Women born with vaginal agenesis, cervical atresia combined with a functioning endometrium typically present with hematometra , disabling pelvic pain and progressively worsening en dometriosis. Almost all need an abdominal hysterectomy for relief. We report a case of severe endometriosis in a 29 years old woman having a bicornuate uterus with cervical atresia and vaginal agenesis.

  7. Treatment of spontaneous pneumothorax in a patient with right pulmonary agenesis.

    Science.gov (United States)

    Boulton, Bryon J; Force, Seth D

    2011-08-01

    Pulmonary agenesis is a rare congenital disease that is associated with many other congenital anomalies. We present the case of a patient, with right pulmonary agenesis and transmediastinal lung herniation, who presented with a spontaneous pneumothorax. This congenital anomaly and the treatment for this rare presentation is discussed in detail.

  8. Agenesia pulmonar unilateral Unilateral pulmonary agenesis

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    Maura Cavada Malcon

    2012-08-01

    Full Text Available A agenesia pulmonar é uma anomalia congênita rara. Relatamos um caso de um menino de 8 anos de idade com agenesia pulmonar à esquerda sem associação com outras malformações. O diagnóstico foi realizado por achados de imagem quando o paciente apresentou sintomas como tosse, sibilância e dispneia sem melhora do quadro clínico após evolução de 30 dias.Pulmonary agenesis is a rare congenital anomaly. We report the case of an 8-year-old boy with left lung agenesis, without any other congenital malformations. When the patient presented symptoms, including cough, wheezing, and dyspnea, with no clinical improvement after a period of 30 days, imaging studies were conducted and the diagnosis was made.

  9. Callosal Agenesis and Interhemispheric Cysts

    OpenAIRE

    J Gordon Millichap

    2001-01-01

    Imaging studies of 25 cases of agenesis of the corpus callosum with interhemispheric cyst were retrospectively reviewed at the University of California, San Francisco, and Harvard Medical School, Boston.

  10. Congenital agenesis of seminal vesicle

    Institute of Scientific and Technical Information of China (English)

    Hong-Fei Wu; Di Qiao; Li-Xin Qian; Ning-Hong Song; Ning-Han Feng; Li-Xin Hua; Wei Zhang

    2005-01-01

    Congenital agenesis of the seminal vesicle (CASV) is frequently associated with congenital absence of the vas deferens (CAVD) or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transurethral unroofing of the Mullerian duct cyst was performed in both patients with favourable results, however, assisted reproductive technology (ART) was still necessary for them to father children.

  11. Maxillary sinus agenesis - report of two cases; Agenesia do seio maxilar - relato de dois casos

    Energy Technology Data Exchange (ETDEWEB)

    Pierre, Jorge Henrique Arraes de Alencar; Santana, Expedito Araujo

    2000-04-01

    Agenesis or aplasia of the maxillary sinuses is an extremely rare condition, and only eight cases have been reported in the world medical literature. These malformations may arise as a result of developmental defects. Two cases of unilateral agenesis of the maxillary sinus are presented and the radiological abnormalities and the embryology are discussed. The literature is also reviewed. (author)

  12. Complete Right Lung Agenesis with Dextrocardia: An Unusual Cause of Respiratory Distress

    Directory of Open Access Journals (Sweden)

    Devki Nandan

    2012-01-01

    Full Text Available Pulmonary agenesis, defined as complete absence of bronchus, parenchyma, and vessels is a very rare condition. Herein, we report a 4-month-old infant who presented with fever, cough, and respiratory distress and was misdiagnosed in a peripheral hospital as a case of pneumonia. The child was, later diagnosed as having right lung agenesis with dextrocardia.

  13. Isolated complete corpus callosal agenesis

    Directory of Open Access Journals (Sweden)

    Jaiganesh S, Venkateshwaran A, Naresh Kumar C, Rajasekhar KV

    2014-11-01

    Full Text Available Isolated complete corpus callosal agenesis is a rare entity. Usually this condition will be an associated finding in other syndromes. 3 month old male child came with complaints of deformed foot on both sides, not having a social smile and neck holding. Patient referred to the Radiology department for MRI brain which showed complete absence of corpus callosum, widely separated and parallely placed lateral ventricles, colpocephaly, high riding of 3rd ventricle and absence of cingulate gyrus and radial arrangement of gyri along the interhemispheric fissure. Hence it was reported as isolated complete corpus callosal agenesis and this article describes the Embryogenesis, anatomy, developmental anomalies and its clinical manifestations & prognosis.

  14. Right Lung Agenesis; Isolated and with Accompanied Anomalies

    Directory of Open Access Journals (Sweden)

    Yakup Canıtez

    2013-12-01

    Full Text Available Right lung agenesis is a rare anomaly that can be isolated or accompanied by system anomalies such as cardiac, skeletal or urinary systems. Case 1, a four-month-old girl, was brought because of respiratory distress. Patient had polydactyly, syndactyly of right thumb, right mandibular hypoplasia and low-set dysmorphic ears. Lung x-ray and thorax computerized tomography (CT were consistent with right pulmonary agenesis and butterfly vertebra was evident in the 7th thoracic level. Thoracic CT angiography revealed narrowing of the left main bronchus and esophagus due to compression of aorta, left pulmonary artery and right atrium. In bronchoscopy, narrowing due to compression at the carina level was seen and right main bronchus was not seen. In abdominal ultrasonography, right kidney placement anomaly (pelvic ectopia was present and renal scintigraphy revealed fusion in both kidneys. With these findings, it was found that right pulmonary agenesis was accompanied by ipsilateral radial ray anomaly, renal anomaly, vertebral anomaly and hemifacial microsomia. Case 2, a fifteen-year-old male patient, was diagnosed as pulmonary agenesis via chest x-ray, pulmonary CT and bronchoscopy after a wheezing episode when he was 2 months old. Patient had no complaint except for exhaustion that is aggravated by exercise during last year. In physical examination, he had a mild scoliosis toward right, respiratory sounds were diminished on right hemithorax and heart sounds were heard on right side. Chest x-ray and thoracic CT were consistent with right lung agenesis. No abnormality was found in echocardiography and abdominal ultrasonography was normal. Accompanied cardiovascular anomalies, distortions of intrathoracic structures and recurrent infections are main factors that affect mortality and morbidity. Here, two cases with right lung agenesis, isolated and accompanied by multiple anomalies, were presented. (Jo­ur­nal of Cur­rent Pe­di­at­rics 2013; 11: 134-7

  15. Pulmonary artery agenesis associated with coronary collaterals among adults.

    Science.gov (United States)

    Darwazah, Ahmad K; Alhaddad, Imad A

    2016-07-16

    Unilateral agenesis of the pulmonary artery is a rare congenital anomaly, which commonly involves the right side. Cases are associated with systemic collaterals, that may also rarely arise from the coronary arteries.Two adult patients are presented with a right pulmonary artery agenesis associated with collaterals from the right coronary artery. The implications of such an anomaly on pulmonary artery pressure and lung pathology differs among both cases. The association of coronary collaterals is rare and its implication is variable among various patients.

  16. Tracheal agenesis: A report of two cases

    Directory of Open Access Journals (Sweden)

    A V Desai

    2016-01-01

    Full Text Available Tracheal agenesis is an extremely rare congenital anomaly involving the respiratory system. It is generally associated with anomalies of other systems. Antenatal diagnosis of this condition is difficult; therefore, it presents as a medical emergency in the labor room. Intubation in these babies is difficult. As many of these babies are born prematurely, respiratory distress syndrome (RDS adds to the management difficulties. Here, we describe two babies with this lethal anomaly and RDS where esophageal intubation and surfactant therapy proved beneficial. Furthermore, described are other associated anomalies.

  17. Agenesis of the corpus callosum and autism: a comprehensive comparison.

    Science.gov (United States)

    Paul, Lynn K; Corsello, Christina; Kennedy, Daniel P; Adolphs, Ralph

    2014-06-01

    The corpus callosum, with its ∼200 million axons, remains enigmatic in its contribution to cognition and behaviour. Agenesis of the corpus callosum is a congenital condition in which the corpus callosum fails to develop; such individuals exhibit localized deficits in non-literal language comprehension, humour, theory of mind and social reasoning. These findings together with parent reports suggest that behavioural and cognitive impairments in subjects with callosal agenesis may overlap with the profile of autism spectrum disorders, particularly with respect to impairments in social interaction and communication. To provide a comprehensive test of this hypothesis, we directly compared a group of 26 adults with callosal agenesis to a group of 28 adults with a diagnosis of autism spectrum disorder but no neurological abnormality. All participants had full-scale intelligence quotient scores >78 and groups were matched on age, handedness, and gender ratio. Using the Autism Diagnostic Observation Schedule together with current clinical presentation to assess autistic symptomatology, we found that 8/26 (about a third) of agenesis subjects presented with autism. However, more formal diagnosis additionally involving recollective parent-report measures regarding childhood behaviour showed that only 3/22 met complete formal criteria for an autism spectrum disorder (parent reports were unavailable for four subjects). We found no relationship between intelligence quotient and autism symptomatology in callosal agenesis, nor evidence that the presence of any residual corpus callosum differentiated those who exhibited current autism spectrum symptoms from those who did not. Relative to the autism spectrum comparison group, parent ratings of childhood behaviour indicated children with agenesis were less likely to meet diagnostic criteria for autism, even for those who met autism spectrum criteria as adults, and even though there was no group difference in parent report of current

  18. Bilateral agenesis of the anterior cruciate ligament: MRI evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Bedoya, Maria A.; Jaramillo, Diego [The Children' s Hospital of Philadelphia, Radiology Department, Philadelphia, PA (United States); McGraw, Michael H. [Hospitalof theUniversityof Pennsylvania, Divisionof Orthopaedics, Philadelphia, PA (United States); Wells, Lawrence [The Children' s Hospital of Philadelphia, Division of Orthopaedics, Philadelphia, PA (United States)

    2014-09-15

    Bilateral agenesis of the anterior cruciate ligament (ACL) is extremely rare. We describe a 13-year-old girl who presented with bilateral knee pain without history of trauma; she has two family members with knee instability. Magnetic resonance imaging showed bilateral absence of the ACL, and medial posterior horn meniscal tears. Bilateral arthroscopic partial meniscectomy and anterior cruciate ligament reconstruction was performed. (orig.)

  19. Mutations in PTF1A cause pancreatic and cerebellar agenesis

    NARCIS (Netherlands)

    Sellick, GS; Barker, KT; Stolte-Dijkstra, [No Value; Fleischmann, C; Coleman, RJ; Garrett, C; Gloyn, AL; Edghill, EL; Hattersley, AT; Wellauer, PK; Goodwin, G; Houlston, RS

    2004-01-01

    Individuals with permanent neonatal diabetes mellitus usually present within the first three months of life and require insulin treatment(1,2). We recently identified a locus on chromosome 10p13-p12.1 involved in permanent neonatal diabetes mellitus associated with pancreatic and cerebellar agenesis

  20. MR in complete dorsal pancreatic agenesis: Case report and review of literature

    Directory of Open Access Journals (Sweden)

    Shruti Thakur

    2014-01-01

    Full Text Available The morphogenesis of the pancreas is a complex process having a very low frequency of anatomic variation. The congenital anomalies are rare. Complete pancreatic and ventral pancreatic agenesis are incompatible with life. Dorsal pancreatic agenesis is exceedingly rare with less than 100 cases reported in the world literature. Patients with this anomaly may be asymptomatic or may present with abdominal pain, hyperglycemia, diabetes mellitus, and acute or chronic pancreatitis. Such anomalies are rarely reported; therefore, clinical awareness of agenesis of the dorsal pancreas as a cause of these symptoms can expand the differential diagnosis and improve patient management.

  1. Isolated complete corpus callosal agenesis

    OpenAIRE

    Jaiganesh S, Venkateshwaran A, Naresh Kumar C, Rajasekhar KV

    2014-01-01

    Isolated complete corpus callosal agenesis is a rare entity. Usually this condition will be an associated finding in other syndromes. 3 month old male child came with complaints of deformed foot on both sides, not having a social smile and neck holding. Patient referred to the Radiology department for MRI brain which showed complete absence of corpus callosum, widely separated and parallely placed lateral ventricles, colpocephaly, high riding of 3rd ventricle and absence of cingulate gyrus an...

  2. Right-side pulmonary agenesis with atrial septal defect in adult.

    Science.gov (United States)

    Das Shukla, Amitabh; Agrawal, Neha; Chandra, Alok; Anantha, Shreenivasa; Chaudhary, Abhinav

    2016-04-01

    Pulmonary agenesis, a rare congenital condition, is incompatible with life when present bilateral, while unilateral agenesis is usually detected in infancy or early childhood. Rare asymptomatic patients may reach adulthood undiagnosed, with signs mimicking common conditions presenting as radiopaque hemithorax with ipsilateral mediastinal shift. Here, we describe a case of a young lady, with history of consanguinity, who presented with complaints, suggestive of lower respiratory tract infection, and was investigated and diagnosed to be a case of right-side pulmonary agenesis with large ostium secondum atrial septal defect. Our present case emphasizes the importance of presence of pulmonary agenesis with cardiac congenital anomaly, remaining asymptomatic until adulthood, particularly in patients born of parents with consanguineous marriages.

  3. Early visual evoked potentials in callosal agenesis.

    Science.gov (United States)

    Barr, Melodie S; Hamm, Jeff P; Kirk, Ian J; Corballis, Michael C

    2005-11-01

    Three participants with callosal agenesis and 12 neurologically normal participants were tested on a simple reaction time task, with visual evoked potentials collected using a high-density 128-channel system. Independent-components analyses were performed on the averaged visual evoked potentials to isolate the components of interest. Contrary to previous research with acallosals, evidence of ipsilateral activation was present in all 3 participants. Although ipsilateral visual components were present in all 4 unilateral conditions in the 2 related acallosal participants, in the 3rd, these were present only in the crossed visual field-hand conditions and not in the uncrossed conditions. Suggestions are made as to why these results differ from earlier findings and as to the neural mechanisms facilitating this ipsilateral activation.

  4. Heterotaxy syndrome with associated agenesis of dorsal pancreas and polysplenia: A case report

    Directory of Open Access Journals (Sweden)

    Syed Althaf Ali1

    2015-01-01

    Full Text Available Heterotaxy syndrome is a rare embryological disorder comprising of polysplenia, partial agenesis of dorsal pancreas, malrotation of gut, cardiac and vascular anomalies resulting from failure of development of the usual left–right asymmetry of organs. We report a rare case of heterotaxy syndrome with polysplenia, partial agenesis of dorsal pancreas and malrotation of gut in a 28 year female presenting with subacute intestinal obstruction along with imaging illustrations, brief discussion and thorough review of literature.

  5. Congenital Unilateral Agenesis of the Parotid Gland: A Case Report and Review of the Literature

    Science.gov (United States)

    Teymoortash, Afshin

    2016-01-01

    Congenital unilateral agenesis of the parotid gland is a rare condition with only few cases reported in the literature. A review of 21 cases in the available literature is presented in this article. We report on a further case of a 34-year-old woman with agenesis of the left parotid gland and lipoma of the right cheek. Clinicopathological characteristics of described cases in the literature were discussed. PMID:27895943

  6. Pulmonary Agenesis and Associated Pulmonary Hypertension: A Case Report and Review on Variability, Therapy, and Outcome.

    Science.gov (United States)

    Muensterer, Oliver; Abellar, Rosanna; Otterburn, David; Mathew, Rajamma

    2015-06-01

    Pulmonary agenesis is a rare congenital disorder with large variability in presentation and prognosis. We describe a full-term infant born with right-sided pulmonary agenesis who underwent thoracoscopic placement of a tissue expander. He ultimately died of pulmonary hypertension. Immunohistology showed intimal hyperplasia without the loss of endothelial caveolin-1 expression. A literature review revealed that while some of these patients have favorable outcome, many succumb despite therapy.

  7. Adult patient with pulmonary agenesis: focusing on one-lung ventilation during general anesthesia

    OpenAIRE

    Yu, Yuetian; ZHU, CHENG; QIAN, XIAOZHE; Gao, Yuan; Zhang, Zhongheng

    2016-01-01

    Congenital pulmonary agenesis is a rare condition with high mortality. Mechanical ventilation in these patients is challenging and there has no such case been reported in the literature. We reported a 61-year-old female with lung agenesis who presented to our hospital with pneumonia and pelvic mass. In the past, she had undergone repairing of atrial septal defect and mitral valve forming surgery at 6-year-old. Thereafter she had remained asymptomatic until this time of hospital admission. The...

  8. Agenesis of the dorsal pancreas

    Institute of Scientific and Technical Information of China (English)

    Wolfgang J Schnedl; Claudia Piswanger-Soelkner; Sandra J Wallner; Robert Krause; Rainer W Lipp

    2009-01-01

    During the last 100 years in medical literature, there are only 54 reports, including the report of Pasaoglu et al ( World J Gastroenterol 2008; 14: 2915-2916), with clinical descriptions of agenesis of the dorsal panc reas in humans . Agenes i s of the dor sal pancreas, a rare congenital pancreatic malformation,is associated with some other medical conditions such as hyperglycemia, abdominal pain, pancreatitis and a few other diseases. In approximately 50% of reported patients with this congenital malformation,hyperglycemia was demonstrated. Evaluation of hyperglycemia and diabetes mellitus in all patients with agenesis of the dorsal pancreas including description of fasting blood glucose, oral glucose tolerance test, glycated hemoglobin and medical treatment would be a future goal. Since autosomal dominant transmission has been suggested in single families,more family studies including imaging technologies with demonstration of the pancreatic duct system are needed for evaluation of this disease. With this letter to the editor, we aim to increase available information for the better understanding of this rare disease.

  9. Renal Agenesis with Full Length Ipsilateral Refluxing Ureter

    Directory of Open Access Journals (Sweden)

    DilipKumar Pal

    2016-04-01

    Full Text Available Unilateral renal agenesis with vesicoureteral reflux in the ipsilateral full length ureter is a rare phenomenon. Herein we report a case of 10-year old boy who presented with recurrent urinary tract infections. No renal tissue was identified on left side in various imaging studies. Micturating cystourethrogram (MCUG showed left sided refluxing and blind ending ureter. Left ureterectomy was done because of recurrent UTI in the refluxing system.

  10. Computed tomography of partial unilateral agenesis of the pectoralis muscles.

    Science.gov (United States)

    Demos, T C; Johnson, C; Love, L; Posniak, H

    1985-01-01

    The most common congenitally absent muscles are the pectoralis major and minor. Absence is usually incomplete. This anomaly is often one component of a syndrome associated with other hand (Poland syndrome) and thoracic anomalies. Computed tomography can identify partial absence of the pectoralis muscle and exactly define the altered anatomy. A patient with myasthenia gravis and isolated partial agenesis of the pectoralis muscle is presented.

  11. Clinical Correlates of Corpus Callosal Agenesis

    OpenAIRE

    J Gordon Millichap

    1998-01-01

    The clinical correlates of agenesis of the corpus callosum were examined in 56 cases (37 adult, 19 pediatric) reported to the British Neurological Surveillance Unit (BNSU) and surveyed at the Department of Psychological Medicine, Institute of Psychiatry, London, UK.

  12. Agenesis of the corpus callosum. An autopsy study in fetuses.

    Science.gov (United States)

    Kidron, Debora; Shapira, Daniel; Ben Sira, Liat; Malinger, Gustavo; Lev, Dorit; Cioca, Andreea; Sharony, Reuven; Lerman Sagie, Tally

    2016-02-01

    Agenesis of the corpus callosum is currently diagnosed prenatally with ultrasound and MRI. While the diagnostic aspects of callosal defects are widely addressed, anatomo-histological data from fetal autopsies are sparse. Callosal defects were present in 50 fetal autopsies. Four distinct groups of complete, partial, hypoplastic, and mixed defects were determined by the gross and histologic details of the corpus callosum. These details helped to rule out other midline defects such as holoprosencephaly. Additional autopsy findings enabled specific diagnoses and suggested etiopathogeneses. Hypoplastic and mixed defects were associated with more abnormalities of the cerebral hemispheres and internal organs. The four groups did not differ according to gender, external dysmorphism, or cerebellar and brainstem anomalies. Defects were classified as syndromic (68 %), encephaloclastic (8 %), undetermined (14 %), or isolated (10 %) based on the autopsy findings. Isolated agenesis of the corpus callosum was diagnosed in only 10 % of the cases in this series, compared to higher numbers diagnosed by prenatal ultrasonography and MRI. Therefore, the autopsy, through its detailed, careful evaluation of external, as well as gross and histological internal features, can elucidate the etiopathogenesis of agenesis of the corpus callosum and suggest specific diagnoses which cannot be ascertained by prenatal imaging.

  13. Prevalence and Characteristics of Tooth Agenesis in Permanent Dentition of Subjects from Tîrgu Mureș

    Directory of Open Access Journals (Sweden)

    Bernadette Kerekes-Máthé

    2013-08-01

    Full Text Available Background: Identification of the characteristics of tooth agenesis is an important component in the understanding of the ethiology of this common developmental dental anomaly. The aim of the present study was to determine the prevalence and the characteristics of tooth agenesis among patients from Tîrgu Mureș. Material and method: The present study is retrospective and descriptive, based on the evaluation of the patient’s dental records from 2004 to 2012 belonging to a pediatric dental office from Tîrgu Mureș. Orthopantomograms and anamnestic data of 947 children and young adults (365 male and 582 female were analyzed. Results: The prevalence of tooth agenesis, excluding third molars, was 7.39%. The difference between the genders was statistically not significant (p = 0.09. The most frequently missing teeth were the upper second incisors, followed by the lower second premolars. The difference between the distribution of agenesis in the upper and lower jaws was statistically significant (p <0.0001. The distribution of dental agenesis between the anterior region and the lateral region of the maxilla and the mandible showed significant differences (p <0.0001. Symmetrical distribution of tooth agenesis was found more frequently (54.54% than assymetrical distribution. Conclusions: The maxillary anterior region and the mandibular lateral region were the most affected by dental agenesis in the permanent dentition of the studied population. The maxilla was more affected than the mandible and bilateral forms of agenesis were more frequently than unilateral forms. The more extreme forms of agenesis were found amongst female

  14. [Agenesis of the infrarenal inferior vena cava with thrombosis of the renal vein in a fetus: a case report].

    Science.gov (United States)

    Raposo Rodríguez, L; Recio Rodríguez, M; Alvarez Moreno, E; López Azorín, M

    2012-01-01

    Agenesis of the inferior vena cava, especially of the infrarenal segment, is exceptional. This condition is thought to result from thrombosis during gestation rather than from a true congenital malformation. Agenesis of the inferior vena cava can be associated with renal vein thrombosis, which in turn is related to suprarenal hemorrhage in the fetus. We present a case of agenesis of the inferior vena cava with preservation of the hepatic segment, thrombosis of the left renal vein, and secondary bilateral suprarenal hemorrhage diagnosed prenatally using sonography and magnetic resonance imaging.

  15. Isolated right pulmonary artery agenesis with agenesis of right upper lobe and bronchiectasis of right lower lobe with anomalous arterial supply from celiac axis with normal venous drainage.

    Science.gov (United States)

    Chaudhry, A; Rathore, M; Banavaliker, J N

    2014-01-01

    Isolated unilateral absence of pulmonary artery (UAPA) is a rare congenital anomaly. When detected in infancy, the condition is commonly associated with cardiovascular defects which are more frequently associated with left pulmonary artery agenesis. Patients with isolated right pulmonary artery agenesis survive into adulthood with minimal or no symptoms and are diagnosed incidentally on the chest radiographs. We report a case of a 19-year-old female patient who presented to us with recurrent haemoptysis. She was symptomatic since the age of four years. We report the rare occurrence of UAPA on right side, agenesis of right upper lobe and bronchiectasis of right lower lobe with anomalous arterial supply of right lung from coeliac axis in this patient.

  16. Right coronary ostium agenesis with anomalous origin of the right coronary artery from an ectasic circumflex artery. A case report.

    Science.gov (United States)

    Ayala, F; Badui, E; Murillo, H; Madrid, R; Almazan, A; Rangel, A; Gutierrez-Vogel, S

    1995-07-01

    In this report the authors present a case with right coronary ostium agenesis with anomalous origin of the right coronary artery from an ectasic circumflex artery, which, according to the literature review, they consider to be a unique case.

  17. Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.

    Directory of Open Access Journals (Sweden)

    Christina S Chao

    Full Text Available Patients with pancreatic agenesis are born without a pancreas, causing permanent neonatal diabetes and pancreatic enzyme insufficiency. These patients require insulin and enzyme replacement therapy to survive, grow, and maintain normal blood glucose levels. Pancreatic agenesis is an uncommon condition but high-throughput sequencing methods provide a rare opportunity to identify critical genes that are necessary for human pancreas development. Here we present the clinical history, evaluation, and the genetic and molecular analysis from two patients with pancreatic agenesis. Both patients were born with intrauterine growth restriction, minor heart defects and neonatal diabetes. In both cases, pancreatic agenesis was confirmed by imaging studies. The patients are clinically stable with pancreatic enzymes and insulin therapy. In order identify the etiology for their disease, we performed whole exome sequencing on both patients. For each proband we identified a de novo heterozygous mutation in the GATA6 gene. GATA6 is a homeobox containing transcription factor involved in both early development of the pancreas and heart. In vitro functional analysis of one of the variants revealed that the mutation creates a premature stop codon in the coding sequence resulting in the production of a truncated protein with loss of activity. These results show how genetic mutations in GATA6 may lead to functional inactivity and pancreatic agenesis in humans.

  18. Sex differences in the incidence of total callosal agenesis in BALB/cCF mice.

    Science.gov (United States)

    Manhães, Alex C; Medina, Alexandre E; Schmidt, Sergio L

    2002-06-14

    Corpus callosum (CC) development and adult morphology seems to be affected by sex. Here we analyzed the incidence of total callosal agenesis in 341 adult male and 318 female BALB/cCF mice. This strain of mice presents total or partial callosal agenesis in approximately 20-30% of its population. No significant differences were found in overall distributions of CC lengths and in average callosal lengths (totally acallosal excluded) between male and female mice. However, a highly significant difference in the incidence of total callosal agenesis was demonstrated: 18% (n=56) of the female mice presented such trait as opposed to 10% of males (n=34). This last result suggests that sex is a relevant factor in callosal development in its earliest stages of formation.

  19. MR diagnosis of penile agenesis: is it just absence of a phallus?

    Energy Technology Data Exchange (ETDEWEB)

    Goenka, Ajit; Jain, Vaibhav; Sharma, Raju; Gupta, Arun K. [All India Institute of Medical Sciences, Department of Radiodiagnosis, New Delhi (India); Bajpai, Minu [All India Institute of Medical Sciences, Department of Paediatric Surgery, New Delhi (India)

    2008-10-15

    Penile agenesis is an extremely rare anomaly that results from absence of the genital tubercle or its failure to develop into a penis during embryonic life. Associated anomalies of the genitourinary and distal gastrointestinal tracts are frequently present. Imaging modalities, particularly MRI and cystography, play a crucial role in establishing the diagnosis and guiding further management. We report a child with penile agenesis with a urethroanal fistula and a blind-ending anterior urethra who had been reared as a male until presentation. (orig.)

  20. Pulmonary Artery Agenesis Associated With Emphysema and Multiple Invasive Non-Small Cell Lung Cancers.

    Science.gov (United States)

    Makdisi, George; Edell, Eric S; Maleszewski, Joseph J; Molina, Julian R; Deschamps, Claude

    2015-06-01

    Pulmonary artery (PA) agenesis in the absence of associated cardiac abnormalities is a rare congenital abnormality. It may remain undiagnosed until adulthood when patients present with respiratory symptoms such as hemoptysis, dyspnea, repeated respiratory infections, or pulmonary hypertension. Herein we present a case of a 50-year-old woman who was found to have multiple, morphologically distinct non-small cell lung cancers in association with agenesis of the PA. This instance represents the fourth reported case of such association in the English literature.

  1. Pulmonary Artery Agenesis: A Case Series

    Directory of Open Access Journals (Sweden)

    Meltem Ağca

    2015-04-01

    Full Text Available Pulmonary artery agenesis is a rare congenital abnormality in which atresia was encountered in the short segment of the right or left pulmonary arteries. It can be isolated or associated with cardiac abnormalities such as tetralogy of Fallot, septal defects or pulmonary stenosis.The majority of cases are diagnosed in childhood whereas some cases yield no symptoms until adulthood. We evaluated retrospectively 5 pulmonary artery agenesis cases diagnosed in our clinics between 1998-2010 with respect to the literature.

  2. Left Pulmonary Agenesis with Right Lung Bronchiectasis in an Adult

    Science.gov (United States)

    Tansir, Ghazal; Sasmal, Gargi; Dixit, Juhi; Sahoo, Ratnakar

    2016-01-01

    Pulmonary agenesis is a rare congenital anomaly characterized by the absence of pulmonary parenchyma and vasculature. Bilateral pulmonary agenesis is incompatible with extrauterine life. Unilateral agenesis is often associated with other congenital cardiovascular, genitourinary and gastrointestinal malformations. Right lung agenesis is more frequently associated with congenital anomalies and has poor prognosis as compared to left lung agenesis. Diagnosis is often made in childhood but can be delayed, if the clinician is not aware about this entity. Chest radiograph in unilateral lung agenesis shows opaque hemithorax and these patients are often confused with other common causes of opaque hemithorax like collapse, pleural effusion and diaphragmatic hernia. We report a case of left lung agenesis with right lung bronchiectasis in a middle-aged adult who was treated for tuberculous pleural effusion and was referred to our institute for persistent symptoms despite treatment. PMID:27790501

  3. Left Pulmonary Agenesis with Right Lung Bronchiectasis in an Adult.

    Science.gov (United States)

    Kumar, Prabhat; Tansir, Ghazal; Sasmal, Gargi; Dixit, Juhi; Sahoo, Ratnakar

    2016-09-01

    Pulmonary agenesis is a rare congenital anomaly characterized by the absence of pulmonary parenchyma and vasculature. Bilateral pulmonary agenesis is incompatible with extrauterine life. Unilateral agenesis is often associated with other congenital cardiovascular, genitourinary and gastrointestinal malformations. Right lung agenesis is more frequently associated with congenital anomalies and has poor prognosis as compared to left lung agenesis. Diagnosis is often made in childhood but can be delayed, if the clinician is not aware about this entity. Chest radiograph in unilateral lung agenesis shows opaque hemithorax and these patients are often confused with other common causes of opaque hemithorax like collapse, pleural effusion and diaphragmatic hernia. We report a case of left lung agenesis with right lung bronchiectasis in a middle-aged adult who was treated for tuberculous pleural effusion and was referred to our institute for persistent symptoms despite treatment.

  4. Agenesis of the lung--a rare congenital anomaly of the lung.

    Science.gov (United States)

    De, Arun

    2013-01-01

    Pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. We report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. The case brings in forth the importance of investigating any infant presenting with features of chronic lung infection for any congenital abnormality of the lung including aplasia of the lung. This case also emphasizes that mildness of the attack does not exclude right sided aplasia of the lung.

  5. Agenesis of the Lung: A Rare Congenital Anomaly of the Lung

    Directory of Open Access Journals (Sweden)

    Arun De

    2013-01-01

    Full Text Available Pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. We report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. The case brings in forth the importance of investigating any infant presenting with features of chronic lung infection for any congenital abnormality of the lung including aplasia of the lung. This case also emphasizes that mildness of the attack does not exclude right sided aplasia of the lung.

  6. Prenatal diagnosis of isolated right pulmonary agenesis using sonography alone: case study and systematic literature review.

    Science.gov (United States)

    Meller, Cesar H; Morris, R Katie; Desai, Tarak; Kilby, Mark D

    2012-12-01

    Pulmonary agenesis is a rare congenital anomaly, estimated to complicate around 1 per 15,000 pregnancies, in which there is complete absence or severe hypoplasia of one or both lungs, frequently associated with other abnormalities. A prospective prenatal diagnosis is a challenge, and a substantial proportion of cases are diagnosed by fetal magnetic resonance imaging, postnatal computed tomography, or postmortem. Thus, there are only a few reported cases of prenatal diagnosis in the literature. We report the prenatal diagnosis of isolated right lung agenesis diagnosed with sonography alone at a relatively early gestational age. We also present a systematic review of the literature for this condition to accompany this case study.

  7. Adult patient with pulmonary agenesis: focusing on one-lung ventilation during general anesthesia.

    Science.gov (United States)

    Yu, Yuetian; Zhu, Cheng; Qian, Xiaozhe; Gao, Yuan; Zhang, Zhongheng

    2016-01-01

    Congenital pulmonary agenesis is a rare condition with high mortality. Mechanical ventilation in these patients is challenging and there has no such case been reported in the literature. We reported a 61-year-old female with lung agenesis who presented to our hospital with pneumonia and pelvic mass. In the past, she had undergone repairing of atrial septal defect and mitral valve forming surgery at 6-year-old. Thereafter she had remained asymptomatic until this time of hospital admission. The patient underwent operation for the pelvic mass with one-lung ventilation (OLV) under general anesthesia. We highlighted the use of protective ventilation (PV) strategy during OLV.

  8. [Congenital lumbar hernia and bilateral renal agenesis].

    Science.gov (United States)

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia.

  9. Paradoxically greater interhemispheric transfer deficits in partial than complete callosal agenesis.

    Science.gov (United States)

    Aglioti, S; Beltramello, A; Tassinari, G; Berlucchi, G

    1998-10-01

    Symptoms of interhemispheric disconnection are typically much less severe in callosal agenesis than after surgical section of the corpus callosum. Sperry [Sperry, R. W., Plasticity of neural maturation. Developmental Biology, 1968, 2 (Suppl.), 306-327.] has attributed this difference to two interconnected factors: (1) the callosal section is usually performed after the brain has lost the maximal degree of functional plasticity associated with the early stages of development and (2) the removal of an already formed structure is more disruptive for functional brain organization than the failure of the same structure to develop. It has been suggested that functional compensation is less efficient if callosal agenesis is partial rather than complete [Dennis, M., Impaired sensory and motor differentiation with corpus callosum agenesis: A lack of callosal inhibition during ontogeny? Neuropsychologia, 1976, 14, 455-469.]. This suggestion is supported by the present findings of partial left-hand anomia, partial left-field alexia and poor tactile cross-localization in a subject with a congenital absence of the posterior part of the corpus callosum due to an arteriovenous malformation. In agreement with many previous studies, similar, though more severe, symptoms of interhemispheric disconnection were found in a subject with a complete section of the corpus callosum, but not in a subject with complete callosal agenesis. Praxic control of the left hand on verbal commands was severely deficient in the callosotomy subject, but it was normal in the subject with callosal hypogenesis. The lesser degree of compensation in partial compared to complete callosal agenesis may be explained by a reduced pressure to develop extracallosal means of interhemispheric communication, contingent on the partial existence of callosal connections, as well as by the later occurrence in development of the causes of callosal hypogenesis compared to those of total callosal agenesis.

  10. [Unilateral pulmonary agenesis, aplasia and dysplasia].

    Science.gov (United States)

    Dembinski, J; Kroll, M; Lewin, M; Winkler, P

    2009-04-01

    Unilateral pulmonary anomalies are rare events of unknown etiology and large clinical variability. Neonatal history does not allow for a reliable prognosis. Interdisciplinary mangament includes prenatal diagnostics and obstetrics, genetics, neonatology, pediatric cardiology and surgery as well as pediatric orthopedics. Neonatal history and long-term follow-up in three patients are presented here including a discussion of prenatal diagnostics and the embryo-genetic basics of lung development. In three term neonates the diagnoses of unilateral pulmonary agenesis, aplasia and dysplasia, respectively, were based on angiography, MRI and bronchoscopy. Neonatal presentation and long-term consequences were studied in the context of the current literature. Neonatal complications ranged from mild repiratory distress to pulmonary failure requiring mechanical ventilation. One patient developed scoliosis on long-term follow-up. Cardiac failure or pulmonary hypertension did not occur during follow-up, in one case lung malformation was accompanied by VACTER-association. Unilateral lung malformation is frequently associated with other, singular or complex anomalies (e.g., renal and vascular). A possible relationship to disrupted regulation of embryo-genetic factors such as T-BOX genes, PITX2 and growth factors ( FGF10), which regulate ASYMMETRICAL pulmonary morphogenesis is discussed. Disruptive unilateral pulmonary malformations may serve as a model for embryological lung development and other anomalies (e.g., congenital diaphragmatic hernia, unilateral hypoplasia and CCAM). Prenatal diagnosis is characterized by unilateral hyperechogenicity of the affected lung. Neonatal presentation is determined by mediastinal shift which may be corrected by tissue-expander implantation. Associated anomalies require cytogenetic analysis and sequencing of currently known mutations. Long-term follow-up by echocardiography and pulmonary function testing is mandatory in these patients.

  11. Agenesis of corpus callosum and emotional information processing in schizophrenia

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    Emmanuel eStip

    2012-02-01

    Full Text Available Corpus callosum (CC is essential in providing the integration of information related to perception and action within a subcortico-cortical network, thus supporting the generation of a unified experience about and reaction to changes in the environment. Its role in schizophrenia is yet to be fully elucidated, but there is accumulating evidence that there could be differences between patients and healthy controls regarding the morphology and function of CC, especially when individuals face emotionally laden information. Here, we report a case study of a patient with partial agenesis of corpus callosum (agCC patient with agenesis of the anterior aspect, above the genu and we provide a direct comparison with a group of patients with no apparent callosal damage (CC group regarding the brain activity during the processing of emotionally-laden information. We found that although the visual cortex activation in response to visual stimuli regardless of their emotional content was comparable in agCC patient and CC group both in terms of localization and intensity of activation, we observed a very large, non-specific and non-lateralized cerebral activation in the agCC patient, in contrast with the CC group, which showed a more lateralized and spatially localized activation, when the emotional content of the stimuli was considered. Further analysis of brain activity in the regions obtained in the CC group revealed that the agCC patient actually had an opposite activation pattern relative to most participants with no CC agenesis, indicating a dysfunctional response to these kind of stimuli, consistent with the clinical presentation of this particular patient. Our results seem to give support to the disconnection hypothesis which posits that the core symptoms of schizophrenia are related to aberrant connectivity between distinct brain areas, especially when faced with emotional stimuli, a fact consistent with the clinical tableau of this particular patient.

  12. Does asymptomatic septal agenesis exist? A review of 34 cases

    Energy Technology Data Exchange (ETDEWEB)

    Belhocine, Ouardia; Andre, Christine; Kalifa, Gabriel; Adamsbaum, Catherine [St Vincent de Paul Hospital, Radiology Department, Paris (France)

    2005-04-01

    Primary septal agenesis (PSA) is a rare brain malformation that can be isolated or part of developmental brain abnormalities (holoprosencephaly, septo-optic dysplasia or cortical malformation). Such associated malformation can be subtle, leading to difficulties in the prenatal management of PSA. Moreover, the neurological prognosis of isolated PSA remains debatable. The aims of the study were to specify the patterns and frequency of brain malformations associated with septal agenesis (SA), to identify the clinical prognosis, and to discuss the aetiology of PSA with the new insights provided by molecular genetics. The study consisted of a 14-year retrospective review of brain MRI in 34 patients having PSA (mean age, 5 years). Chiasm and optic nerves were not evaluated. Post-hydrocephalus SA or incomplete data were excluded. The clinical data were correlated to the MRI patterns. The study disclosed 82.5% associated lesions with MRI (28/34): 11 neuronal migration disorders, 9 holoprosencephalies (HP), 7 pituitary stalk interruptions, 1 corpus callosum partial agenesis; 17.5% (6/34) of cases were apparently isolated PAS. Clinically, the patients had motor dysfunction in 68% (23/34), mental retardation in 65% (22/34), blindness in 24% (8/34), endocrinological defects in 21% (7/34) and epilepsy in 18% (6/34) of cases. Nine percent of patients (3/34) were neurologically normal (including one with scoliosis and two infants younger than 2 years at the last follow-up). Patients with bilateral cortical anomalies and HP (even if mild) had the worst neurological prognosis. A severe motor impairment was present without evidence of hemispheric anomaly in 12% of patients (4/34). Interestingly, the frontal lobes were involved in 90% of cortical anomalies and HP, supporting the malformative aetiology of PSA. PSA rarely appears isolated and severe psychomotor impairment may occur in apparently isolated forms. These unfavourable results should be highlighted and need to be confirmed

  13. Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum

    Directory of Open Access Journals (Sweden)

    Jomol Sara John

    2013-01-01

    Full Text Available Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are variations. Here, we report a rare case of Moebius syndrome in a 15-month-old child with unilateral facial palsy, bilateral abducens nerve palsy with Dandy Walker variant, and complete agenesis of corpus callosum.

  14. The incidence of anterior belly of digastric agenesis in patients with hemifacial microsomia.

    Science.gov (United States)

    MacQuillan, Anthony; Biarda, Fulvio Ursa; Grobbelaar, Adriaan

    2010-10-01

    : The study examined the incidence of anterior belly of digastric muscle agenesis in patients with hemifacial microsomia, to determine the need for routine imaging of the floor of the mouth in patients within this group requesting dynamic lower lip reanimation. : Patients presenting with microtia were assessed according to the OMENS [orbital deformity, mandibular hypoplasia, ear deformity, nerve (cranialnerve VII) involvement, and soft-tissue deficiency] criteria, and also imaged to establish the presence or absence of the anterior belly of the digastric muscle. Each affected hemiface was treated as an individual case (n = 50), with unaffected hemifaces being assigned as controls (an additional group of unaffected controls were also included). The hemifaces with microtia were then subdivided into three groups: those with isolated microtia (with anterior belly of the digastric muscle present), those with features consistent with hemifacial microsomia (with the anterior belly of the digastric muscle present), and those with absent anterior belly of the digastric muscle. : Anterior belly of the digastric muscle agenesis rate was 40 percent in those patients displaying features consistent with hemifacial microsomia. Median OMENS scores were significantly different in intergroup analysis (p muscle. There were no noted incidences of anterior belly of the digastric muscle agenesis in the control group. : The incidence of anterior belly of the digastric muscle agenesis in patients with hemifacial microsomia is high. Before any attempt to undertake lower lip reanimation using this muscle, the floor of the mouth should be imaged to check for its presence.

  15. Unilateral pulmonary agenesis associated with tracheal stenosis : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Yong Suk; Yoon, Chong Hyun; Kim, Kyung Sook; Kim, Ki Soo; Pi, Soo Young [Univ. of Ulsan, Ulsan (Korea, Republic of). Colle. of Medicine

    1998-02-01

    Unilateral pulmonary agenesis is a rare congenital anomaly and is frequently associated with other congenital anomalies. We report a case of left pulmonary agenesis associated with congenital tracheal stenosis in a newborn infant. Simple chest radiographs showed an overinflate right lung and mediastinal shifting to the left side. Chest ST and reconstructed three-dimensional images showed left pulmonary agenesis and tracheal stenosis. These anomalies of the tracheobronchial system were confirmed by bronchography. (author). 10 refs., 3 figs.

  16. A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature.

    Science.gov (United States)

    Lal, Anupam; Pavunesan, Santhosh Kumar; Mahalingam, Harshavardhan; Garg, Mandeep; Sinha, Saroj K; Khandelwal, Niranjan

    2015-03-20

    Agenesis of the dorsal pancreas is a rare congenital anomaly which can be detected either incidentally during imaging or encountered during investigation for pancreas related pathologies such as pancreatitis or diabetes mellitus. Few associations of this condition with heterotaxy syndrome, pancreatic tumors and congenital heart disease have been described. We report a novel association of genitourinary anomalies in a case of complete dorsal pancreatic agenesis not previously described in the literature. Knowledge about dorsal pancreatic agenesis is essential for radiologist in patients presenting with unexplained pain abdomen and its association with various conditions may help radiologist in assisting clinician in management of these patients.

  17. Pulmonary agenesis associated with dextrocardia, sternal defects, and ectopic kidney.

    Science.gov (United States)

    Eroglu, Atilla; Alper, Fatih; Turkyilmaz, Atila; Karaoglanoglu, Nurettin; Okur, Adnan

    2005-12-01

    Pulmonary agenesis is a rare embryological defect, usually unilateral, and is associated with skeletal, cardiovascular, and other anomalies. A 22-month-old girl was admitted to our clinic with recurrent pulmonary infections. A chest X-ray and multidetector computed tomography (MDCT) revealed pulmonary agenesis with dextrocardia, sternal defects, and a right pelvic ectopic kidney. We report on the first known case of right-sided pulmonary agenesis combined with isolated dextrocardia, sternal defects, and an ectopic kidney. The importance of MDCT for the diagnosis of pulmonary agenesis and associated other anomalies is demonstrated.

  18. Total agenesis of the left pericardium

    Directory of Open Access Journals (Sweden)

    J. Glauco Lobo Fº

    1999-09-01

    Full Text Available This is the report of a 46-year-old patient with the preoperative diagnosis of an atrial septal defect (ASD of the ostium secudum type. After sternectomy, partial agenesis of the left pericardium was diagnosed. It is our opinion that, if the radiographic picture is suggestive of this entity, a clinical search for cardiopulmonary anomalies should be performed, because the majority of these associated anomalies can and should be surgically corrected.

  19. Fetal MR imaging diagnosis of pulmonary agenesis.

    Science.gov (United States)

    Kuwashima, Shigeko; Kaji, Yasushi

    2010-01-01

    A woman was referred to our institution with an ultrasound (US) suggestive of right-sided heart in fetus at 34 weeks' gestation. Magnetic resonance (MR) imaging revealed right-sided heart, small right hemithorax, and completely absent right main bronchus and right pulmonary artery. From our experience with this case, we point out 5 important MR imaging findings needed for prenatal diagnosis of pulmonary agenesis. Fetal MR imaging also provided information about anomalies of other organs.

  20. Callosal agenesis followed postnatally after prenatal diagnosis.

    Science.gov (United States)

    Imataka, George; Nakagawa, Eiji; Kuwashima, Shigeko; Watanabe, Hiroshi; Yamanouchi, Hideo; Arisaka, Osamu

    2006-09-01

    Callosal agenesis is a congenital brain anomaly caused by embryonal hypogenesis of the corpus callosum. Concerning the neurological prognosis, epilepsy and motor disturbance are noted in some cases, while many cases are asymptomatic and the prognosis is good. We report a fetus tentatively diagnosed with hydrocephaly on prenatal echo-encephalography, which was performed without adequate explanation to and understanding of the parents. The parents had not expected an abnormality before the screening, and were subsequently not psychologically prepared for the discovery of the congenital brain anomaly on imaging. Moreover, they received no guidance on how to deal with any possible abnormalities. The pregnant mother was referred to our hospital. Prenatal MRI was performed after informed consent was obtained, and the fetus was diagnosed with callosal agenesis. The patient was followed for 5 years, and neurological development was normal. However, the parents have remained anxious while raising the child. Thus, the prenatal diagnosis of callosal agenesis in this case caused unnecessary mental burden to the parents. Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test.

  1. Combined spinal epidural anesthesia for cesarean section in a patient with left lung agenesis.

    Science.gov (United States)

    Babita, G; Rashmi, M; Deb, K

    2001-04-01

    Agenesis of the lung is a rare developmental defect characterized by complete absence of one lung, or hypoplasia of one or both lungs. The majority of reported cases have been associated with other congenital anomalies. It is usually detected in childhood as a result of either pulmonary symptoms or associated anomalies. Although pulmonary agenesis has been reported in adults, there is no report of the management of a pregnant patient for cesarean section in the anesthetic literature. We report the management of a 23-year-old pregnant female at 36 weeks' gestation with oligohydramnios and left lung agenesis for elective cesarean section. She presented with a history of repeated chest infection and was found to have restrictive lung function. She had no other congenital anomalies. Combined spinal epidural anesthesia was administered for cesarean section. The intraoperative course was uneventful except for bradyarrhythmias followed by tachyarrhythmias on manipulation of the uterus. She was given low dose epidural morphine with local anesthetic and intramuscular diclofenac for postoperative analgesia. We believe that normal pregnancy can safely be undertaken in the presence of left lung agenesis. In view of associated congenital anomalies in more than 50% of the cases, anesthetic management should include a particularly careful survey of other systems. The patient should otherwise be managed like any patient with limited pulmonary reserve. Combined spinal epidural anesthesia is safe and appropriate for such patients.

  2. Infrahepatic inferior vena cava agenesis with bilateral renal vein thrombosis.

    Science.gov (United States)

    Skeik, Nedaa; Wickstrom, Kelly K; Schumacher, Clark W; Sullivan, Timothy M

    2013-10-01

    Congenital anomalies of the inferior vena cava (IVC) are rare and are estimated to be present in 0.07-8.7% of the general population. IVC agenesis (IVCA) is found in approximately 5% of cases of unprovoked lower extremity deep vein thrombosis in patients Renal vein thrombosis (RVT) is an extremely rare and unusual presentation of IVCA. We report a unique case of a 23-year-old previously healthy man presenting with infrahepatic IVCA-induced bilateral RVT with azygos and hemiazygos continuation. To our knowledge, this is the third reported case in the literature of IVCA-induced RVT and the first to affect the bilateral renal veins in the absence of any other thrombogenic risk factors or any lower extremity venous complications. We also present a literature review of IVCA-induced vein thrombosis and highlight the lack of literature to manage this condition.

  3. Nasal Septal Agenesis and Attenuated Lower and Upper Lateral Cartilages in a 5-Year-Old Child: A Sporadic Finding

    Science.gov (United States)

    Aldaghri, Faris; Mrad, Mohamed Amir

    2016-01-01

    Introduction: Cartilaginous nasal septal agenesis is a rare finding. In fact, just one case has been reported to have congenital agenesis of all nasal cartilages in a 6-year-old child by Bakhshaee et al. The literature review shows another case that was reported by Ozek et al in Turkey, where they reported a case of total nasal agenesis that was associated with Tessier no. 30. We could not find a similar case in the literature where only agenesis of the nasal cartilaginous septum was present. Methods/Case Report: This is a case report of a 5-year-old child presenting to our clinic with agenesis of his nasal septum and attenuation of the upper and lower lateral cartilages. His parents were seeking a corrective procedure to improve the shape of his nose. He was a male child with a right unilateral cleft lip and palate that were corrected surgically in 2009 (lip repair) and 2010 (palate repair), respectively. Results: On postoperative week 3, the patient's mother brought him to the emergency department with a history of falling on his face while playing at home. Examination revealed swelling of the nose but no breathing difficulties. He still had an acceptable augmented nose but with sings of deviation and collapse. Discussion: We report this case to find an answer to how such cases can be approached in the future in terms of the surgical intervention required and to study the options of redoing such cases. PMID:28101289

  4. Sequence analysis of candidate genes in two Roma families with severe tooth agenesis

    Directory of Open Access Journals (Sweden)

    Gabriková Dana

    2016-01-01

    Full Text Available Selective tooth agenesis is the most common congenital disorder affecting the formation of dentition in humans. Both its forms (hypodontia and more severe oligodontia can be found either in isolated form and they can be associated with systemic condition (syndromic tooth agenesis. In addition to previously known genes (PAX9, MSX1 and AXIN2 mutations in EDA, EDARADD and WNT10 gene were recently found to be involved in isolated forms of tooth agenesis. The objective of this study was to characterize the phenotype of affected members in two large families of Roma origin segregating severe isolated tooth agenesis with very variable phenotype and to perform mutation analysis of seven genes with aim to find causal mutation. 26 family members were clinically examined and coding regions of seven genes (MSX1, PAX9, AXIN2, EDA, EDAR, EDARADD and WNT10A were sequenced. With exclusion of third molars, average number of missing teeth was 8.2 ± 4.9 in family 1 and 7.1 ± 2.3 in family 2. The most frequently missing teeth were maxillary lateral incisors and first premolars and mandibular central incisors. Sequencing revealed four potentially damaging variants (g.Ala40Gly in MSX1, g.Ala240Pro in PAX9, g.Pro50Ser in AXIN2 and g.Met9Ile in EDARADD; however, none of them was present in all affected family members. Variable phenotype in both families examined in this study is in favour of heterogeneous genetic cause of tooth agenesis in these families: possible interaction of several defected genes, sequence variants in regulatory regions and additional environmental factors is assumed.

  5. Agenesis of internal carotid artery associated with congenital anterior hypopituitarism

    Energy Technology Data Exchange (ETDEWEB)

    Moon, W.-J. [Department of Diagnostic Radiology, Samsung Medical Center, Seoul (Korea); Institute of Neuroradiology, University of Frankfurt (Germany); Porto, L.; Lanfermann, H.; Zanella, F.E. [Institute of Neuroradiology, University of Frankfurt (Germany); Weis, R. [Department of Pediatric Neurology, University of Frankfurt (Germany)

    2002-02-01

    We report a rare case of unilateral agenesis of the internal carotid artery in association with congenital anterior hypopituitarism. The collateral circulation is supplied by a transsellar intercavernous anastomotic vessel connecting the internal carotid arteries. These abnormalities are well depicted on MRI and MRA. The agenesis of the internal carotid artery may explain the pathogenesis of some of congenital anterior hypopituitarism. (orig.)

  6. Parkinsonism "Plus" Syndrome With Incidental Corpus Callosal Agenesis

    Directory of Open Access Journals (Sweden)

    Shanbhogue K R

    1999-01-01

    Full Text Available A case of Parkinsonism ′Plus′ syndrome with cranial CT scan and MRI showing corpus callosal agenesis is reported. There were no clinical signs of callosal separation. The causes for the discrepancies between the lack of clinical signs of callosal separation and imaging appearances are discussed. The callosal agenesis is in all probability incidental.

  7. Parkinsonism "Plus" Syndrome With Incidental Corpus Callosal Agenesis

    OpenAIRE

    Shanbhogue K R; Bennett D; Shankar V; Murugesan S; Stephen A S K; Karnan B; Srikanth S

    1999-01-01

    A case of Parkinsonism ′Plus′ syndrome with cranial CT scan and MRI showing corpus callosal agenesis is reported. There were no clinical signs of callosal separation. The causes for the discrepancies between the lack of clinical signs of callosal separation and imaging appearances are discussed. The callosal agenesis is in all probability incidental.

  8. Patterns of tooth agenesis in patients with orofacial clefts

    NARCIS (Netherlands)

    Hermus, Ruurd R.; van Wijk, Arjen J.; Tan, Stephan P. K.; Kramer, Gem J. C.; Ongkosuwito, Edwin M.

    2013-01-01

    Orofacial clefts are a common oral disorder associated with tooth agenesis. As information on the simultaneous absence of teeth can be an aid in treatment planning, a large sample of orofacial cleft patients was examined. The sample consisted of 910 patients with cleft lip and palate. Tooth agenesis

  9. Herlyn-Werner-Wunderlich Syndrome Consisting of Uterine Didelphys, Obstructed Hemivagina and Ipsilateral Renal Agenesis in a Newborn

    Directory of Open Access Journals (Sweden)

    Tsung-Hsin Wu

    2012-02-01

    Full Text Available Herlyn-Werner-Wunderlich (HWW syndrome is a rare variant of Müllerian duct anomalies consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Patients with HWW syndrome are usually asymptomatic until menarche, when they present with acute lower abdominal pain. Here we report a case of a female newborn with right renal agenesis diagnosed during the pregnancy. The patient presented with a protruding mass over the vaginal introitus that was associated with an obstructed hemivagina and uterine didelphys.

  10. Combined Anomaly of the Right Hepatic Lobe Agenesis and Absence of the Inferior Vena Cava: a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Suh, Hee Jung; Kim, Wan Tae; Kim, Mi Young; Cho, Yun Ku [Seoul Veterans Hospital, Seoul (Korea, Republic of)

    2008-07-15

    The absence of the inferior vena cava is an uncommon congenital anomaly that has recently been identified as an important risk factor contributing to the development of deep venous thrombosis. Congenital agenesis of the right hepatic lobe is a rare anomaly which is found incidentally in radiologic examinations. We present a case of a congenital absence of the infrarenal inferior vena cava, combined with agenesis of the right hepatic lobe in a 62-year-old man presented with symptoms of deep venous thrombosis

  11. Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children.

    Science.gov (United States)

    He, Huan; Sun, Feifei; Ren, Weidong; Wang, Yonghuai; Xu, Shu

    2016-10-01

    Unilateral lung agenesis, a rare congenital deformity, is secondary to abnormal embryonic development, leading to a shift of the mediastinum and remaining lung. In our case reports, we describe the diagnostic courses of two pediatric patients with unilateral lung agenesis admitted to our hospital in 2014. We present and compare the findings in transthoracic echocardiography with that in CT. Echocardiography played a pivotal role in revealing pulmonary deformities and leading to the diagnosis. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:514-517, 2016.

  12. Can Kallmann syndrome be occasionally diagnosed during childhood? Genetic diagnosis in a child with associated renal agenesis and mirror movements

    Institute of Scientific and Technical Information of China (English)

    Neoklis A. Georgopoulos; Vasiliki Koika; Petros Varmavas; Alexandra Efthymiadou; Dimitra J. Marioli; Stefanos Mantagos; Dionysios Chrysis

    2009-01-01

    @@ Dear Sir, I am Neoklis A. Georgopoulos, from Department of Obstetrics and Gynaecology, Division of Reproductive Endocrinology, University of Patras Medical School,Greece. We present an early prepubertal diagnosis of Kallmann syndrome (KS) in a child with anosmia, renal agenesis and mirror movements. KS is a congenital defect characterized by the presence of hypogonadotropic hypogonadism and anosmia or hyposmia [1].Besides hypogonadism and anosmia, the clinical phenotype is characterized by the presence of other associated features, including, among others, mirror movements (synkinesis), cleft palate and renal agenesis/dysgenesis.

  13. Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis.

    Science.gov (United States)

    Callahan, N; Modesto, A; Meira, R; Seymen, F; Patir, A; Vieira, A R

    2009-01-01

    Tooth agenesis is a common congenital disorder that affects almost 20% of the world's population. A number of different genes have been shown to be associated with cases of tooth agenesis including AXIN2, IRF6, FGFR1, MSX1, PAX9, and TGFA. Of particular interest is AXIN2, which was linked to two families segregating oligodontia and colorectal cancer. We studied two collections of families affected with tooth agenesis and tested them for association with AXIN2. Significant association between tooth agenesis and AXIN2 was found (p=0.02) in cases with at least one missing incisor. Our work further supports a role of AXIN2 in human tooth agenesis and for the first time suggests AXIN2 is involved in sporadic forms of common incisor agenesis. Future studies should identify which specific tooth agenesis sub-phenotypes are consequence of AXIN2 genetic variations. A sub-set of these cases could have an increased susceptibility for colon cancer or other types of tumours and this knowledge would have significant clinical implications.

  14. Agenesis of the corpus callosumina premature infant associated with Langdon-Down syndrome

    Directory of Open Access Journals (Sweden)

    Velisavljev-Filipović Gordana

    2005-01-01

    Full Text Available Introduction Agenesis of the corpus callosum is an abnormality of the part of the brain connecting the two cerebral hemispheres. It can be partial, complete or atypical. The fibers from the cerebral cortex project towards the homotypical region of the contra-lateral cortex passing through the corpus callosum, and crossing the middle line. The absence of corpus callosum causes failure of information transfer from one hemisphere to the other. Children with this anomaly present with learning disabilities and trouble with memorizing facts. Agenesis of corpus callosum may be of syndromic or non-syndromic type. The more common form is the one not associated with any syndrome. The agenesis of corpus callosum is more frequent in male children. Case report This paper presents a child from a twin pregnancy with partial absence of corpus callosum. The pregnancy was not controlled. It ended in premature birth. The afflicted twin is a boy, second in birth order. Apart from agenesis of corpus callosum, he also suffers from Down syndrome. The first twin is healthy, with corpus callosum and with normal karyotype. There was no consanguinity. In the 6th month of pregnancy the mother suffered from infection of the upper respiratory tract that might be the etiological factor of this anomaly. The child was born with hypotrophy, and all anthropometric parameters were below the third percentile. In the neonatal period, the agenesis of corpus callosum was diagnosed by ultrasonic examination and confirmed by CT and MR examinations. The child is now three and a half month old. Active monitoring of the psychical and motor development will show whether there will be any retardation in the psycho-motor development and later deficiency of the higher cortical functions and intelligence. Discussion and Conclusion The clinical characteristics of this anomaly are numerous. They range from asymptomatic cases, with normal intellectual capacity, to severe mental retardation

  15. [Cocaine and trisomy 8 associated with prenatal diagnosis of corpus callosum agenesis].

    Science.gov (United States)

    Gonzales, E; Caeymaex, L; Aboura, A; Vial, M; De Laveaucoupet, J; Labrune, P; Tachdjian, G

    2005-12-01

    We report the case of a newborn presenting an agenesis of corpus callosum (ACC) discovered in the prenatal period and initially related to cocaine exposure during the first trimester of gestation. The cytogenetic analysis revealed a trisomy 8 mosaicism. The putative role of prenatal cocaine exposure and mosaicism for chromosome 8 in ACC are discussed. This report emphasizes the specific analysis of chromosome 8 by using fluorescence in situ hybridization as a complement to routine cytogenetic analysis for prenatal diagnosis of ACC.

  16. Imaging Features of Isolated Unilateral Pulmonary Artery Agenesis: a review of four cases

    OpenAIRE

    Batur, Abdussamet; Ödev, Kemal; Pekcan, Sevgi

    2015-01-01

    To highlight the variation in imaging and clinical manifestations of four cases of isolated unilateral absence of pulmonary artery presented in varied ages. Four patients with unilateral pulmonary artery agenesis were referred to our institution They underwent a series of investigations, including chest radiography, computed tomography and magnetic resonance imaging. Two of the four patients had absence of the right main pulmonary artery, while the remaining two patients had absence of the le...

  17. Congenital bilateral agenesis of the tibialis anterior muscles: a rare case report.

    Science.gov (United States)

    Htwe, Ohnmar; Swarhib, M; Pei, Tan Sook; Naicker, Amaramalar Selvi; Das, S

    2012-01-01

    Congenital bilateral agenesis of the tibialis anterior muscles is a rare condition. We present a case of congenital absence of bilateral tibialis anterior muscles in a 6-year-old boy who presented with an abnormal gait. He was previously diagnosed to have bilateral congenital talipes equinovarus (CTEV) deformity for which he underwent corrective surgery two times. However, he still had a residual foot problem and claimed to have difficulty in walking. On examination, he walked with a high stepping gait and muscle power of both lower limbs was 5/5 on the medical research council scale (MRCS) except for both ankle dorsiflexors and long toe extensors. The sensation was intact. Magnetic Resonance Imaging (MRI) study of both legs revealed that tibialis anterior muscles were not visualized on both sides suggestive of agenesis of the tibialis anterior muscles. The rest of the muscles appeared mildly atrophied. The electrophysiological study showed normal motor and sensory conduction in both upper and lower limbs. Electromyographic (EMG) study of the vastus medialis was within normal limit and no response could be elicited for EMG of tibialis anterior muscles suggesting possible absence of tibialis anterior muscles, bilaterally. The patient underwent split tibialis posterior tendon transfer to achieve a balanced and functional foot and was well on discharge. The present case describes the normal anatomy and embryology of tibialis anterior muscles as well as possible causes of its agenesis along with its clinical implications.

  18. Uterine conserving surgery in a case of cervicovaginal agenesis with unicornuate uterus

    Science.gov (United States)

    Mishra, Vineet; Saini, Suwa Ram; Nanda, Sakshi; Choudhary, Sumesh; Roy, Priyankur; Singh, Tanvir

    2016-01-01

    The presence of cervicovaginal agenesis with unicornuate uterus is a very rare mullerian anomaly. Its true incidence is still unknown. The presence of functioning unicornuate uterus poses a great challenge for a gynecologist because a successful repair could restore normal menses and may preserve a patient's fertility. Hence, we report a case of 16-year-old unmarried female who presented with chief complaints of primary amenorrhea with cyclical lower abdominal pain. On clinical and radiological evaluation, she was diagnosed with complete cervicovaginal agenesis with right unicornuate uterus (hematometra and hematosalpinx). She underwent vaginoplasty (McIndoes method) along with uterovaginal anastomosis by neocervix formation, in order to preserve her uterus. On follow-up, her vagina was completely healed, and she was menstruating normally. PMID:28216917

  19. Coincidence of congenital agenesis of left lung and common atrium: a very rare case.

    Science.gov (United States)

    Nabati, Maryam; Bagheri, Babak; Habibi, Valiolla

    2013-05-01

    Pulmonary agenesis is characterized by undeveloped pulmonary vessels, bronchi as well as lung parenchyma and is a rare congenital anomaly with unknown etiology. It is usually diagnosed during childhood. Nearly, one third of these patients have concomitant congenital heart diseases. While more than 50% of these patients die before the age of 5 years, some other patients may be asymptomatic throughout their life. On the other hand, common atrium, another rare congenital anomaly, is characterized by complete absence of the atrial septum and is usually accompanied by atrioventricular valve malformations. An 18-year-old male presented with concomitant pulmonary agenesis and common atrium and had not undergone surgery due to high risk for mortality.

  20. Uterine conserving surgery in a case of cervicovaginal agenesis with unicornuate uterus

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    Vineet Mishra

    2016-01-01

    Full Text Available The presence of cervicovaginal agenesis with unicornuate uterus is a very rare mullerian anomaly. Its true incidence is still unknown. The presence of functioning unicornuate uterus poses a great challenge for a gynecologist because a successful repair could restore normal menses and may preserve a patient′s fertility. Hence, we report a case of 16-year-old unmarried female who presented with chief complaints of primary amenorrhea with cyclical lower abdominal pain. On clinical and radiological evaluation, she was diagnosed with complete cervicovaginal agenesis with right unicornuate uterus (hematometra and hematosalpinx. She underwent vaginoplasty (McIndoes method along with uterovaginal anastomosis by neocervix formation, in order to preserve her uterus. On follow-up, her vagina was completely healed, and she was menstruating normally.

  1. Prenatal diagnosis of a fetus with anencephaly and thumb agenesis.

    Science.gov (United States)

    Barone, Chiara; Bartoloni, Giovanni; Cataliotti, Antonella; Indaco, Lara; Pappalardo, Elisa; Barrano, Barbara; Ettore, Giuseppe; Bianca, Sebastiano

    2012-03-01

    Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of genetic counseling.

  2. Mitral valve replacement in an adult with left pulmonary agenesis.

    Science.gov (United States)

    Saskin, Huseyin; Idiz, Mustafa; Duzyol, Cagri; Macika, Huseyin; Aksoy, Rezan

    2015-06-26

    Pulmonary agenesis is associated with the absence of pulmonary vessels, bronchi, or parenchyma. This condition usually occurs between the 4th and 5th week of gestation during the embryonic phase. Etiopathogenic factors associated with pulmonary agenesis are not fully understood. In the literature, genetic and teratogenic factors, viral infections, and vitamin-A deficiency are shown to be associated with pulmonary agenesis [Malcon 2012]. This condition may be seen unilaterally or bilaterally. Although the precise rate of incidence is unknown, it is estimated to occur in one of every 10,000 to 12,000 live births [Yetim 2011]. There is a 1.3:1 female predominance with unilateral agenesis [Halilbasic 2013].

  3. Anorectal agenesis with rectovaginal fistula: A rare/regional variant

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    Subhasis Roy Choudhury

    2017-01-01

    Conclusion: RVF with anorectal agenesis is a rare/regional variant of female ARMs. Clinical examination along with distal colostogram, EUA, and endoscopy clinches the diagnosis. Anorectal reconstruction by posterior sagittal anorectoplasty results in a satisfactory outcome.

  4. Right pulmonary artery agenesis with patent ductus arteriosus and Eisenmenger syndrome: a rare case diagnosed during the postpartum period.

    Science.gov (United States)

    Beker-Acay, Mehtap; Ozkececi, Gulay; Unlu, Ebru; Hocaoglu, Elif; Kacar, Emre; Onrat, Ersel

    2014-01-01

    Unilateral absence of a pulmonary artery a very rare congenital disorder. We here present a case of a 22-year-old female patient with agenesis of the right pulmonary artery accompanying patent ductus arteriosus and Eisenmenger syndrome, diagnosed by chest X-ray and multidetector computed tomography 5 days after giving birth.

  5. Massive Hematometra due to Congenital Cervicovaginal Agenesis in an Adolescent Girl Treated by Hysterectomy: A Case Report

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    Turki Gasim

    2013-01-01

    Full Text Available A case of massive hematometra with a bicornuate uterus in a 14-year-old mentally handicapped girl complicated by vaginal agenesis and absent cervix is presented. She was managed by abdominal hysterectomy and right salpingo-oophorectomy that included the ovarian cystadenoma. The left ovary was conserved. This treatment was considered appropriate for this patient.

  6. Congenital scoliosis associated with agenesis of the uterine cervix. Case report

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    Monica Matteo

    2004-06-01

    Full Text Available Abstract Background Alterations in the normal sequence of development of müllerian ducts lead to a wide spectrum of reproductive tract abnormalities. A rare form of lack of development, regarding a short tract of the müllerian ducts, leads to the isolated agenesis of the uterine cervix. Anomalies identified among patients with müllerian agenesis include skeletal deformities (i.e., scoliosis of the spine and Klippel-Feil anomaly. Case presentation A 46 years old woman presenting cyphoscoliosis and very low stature (120 cm – 3,93 feet, came to our observation for acute pelvic pain; she also reported primary amenorrhoea associated with cyclic pelvic pain. Clinical and imaging evaluation, evidenced a blind vaginal duct of normal length, left cystic adnexal mass, and enlarged uterus with hematometra. FSH, LH, 17β estradiol and CA-125, karyotype and radiographic study of limbs and vertebral column were also evaluated. At laparotomy, a left ovarian cyst was found. Uterus ended at the isthmus; under this level a thin fibrous tissue band was found, joining the uterus to the vagina. Uterine cervix was replaced by fibrous tissue containing some dilated glands lined with müllerian epithelium. Karyotype resulted 46, XX. The described skeletal deformity, were consistent with Klippel-Feil syndrome. Conclusion We report a case of congenital scoliosis associated with müllerian agenesis limited to uterine cervix, association thus far seen only among patients with Mayer-Rokitansky-Kuster-Hauser syndrome (utero-vaginal agenesis. This case report supports the necessity to evaluate, for accompanying müllerian anomalies, all cases of congenital structural scoliosis in view of the possibility for many müllerian development abnormalities, if timely diagnosed, to be surgically corrected.

  7. Agenesis of the corpus callosum and autism: a comprehensive comparison

    OpenAIRE

    Paul, Lynn K.; Corsello, Christina; Kennedy, Daniel P.; Adolphs, Ralph

    2014-01-01

    The corpus callosum, with its ∼200 million axons, remains enigmatic in its contribution to cognition and behaviour. Agenesis of the corpus callosum is a congenital condition in which the corpus callosum fails to develop; such individuals exhibit localized deficits in non-literal language comprehension, humour, theory of mind and social reasoning. These findings together with parent reports suggest that behavioural and cognitive impairments in subjects with callosal agenesis may overlap with t...

  8. Facial emotion recognition in agenesis of the corpus callosum

    OpenAIRE

    Bridgman, Matthew W.; Brown, Warren S.; Spezio, Michael L.; Leonard, Matthew K.; Adolphs, Ralph; Paul, Lynn K.

    2014-01-01

    Background: Impaired social functioning is a common symptom of individuals with developmental disruptions in callosal connectivity. Among these developmental conditions, agenesis of the corpus callosum provides the most extreme and clearly identifiable example of callosal disconnection. To date, deficits in nonliteral language comprehension, humor, theory of mind, and social reasoning have been documented in agenesis of the corpus callosum. Here, we examined a basic social ability as yet not ...

  9. Pulmonary Artery Agenesis with Bronchial Asthma

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    Hassan Ghobadi

    2014-05-01

    Full Text Available Unilateral Pulmonary Artery Agenesis (UPAA is a rare congenital anomaly during the 4 th  week of gestational age. It is defined as an absence of pulmonary parenchyma and its supporting artery. A 9-year-old girl was admitted to our hospital because of chronic cough. Chest examination showed a decrement in lung sound of right hemi-thorax with expiratory wheeze. Chest radiography (CXR revealed a semi-opaque right hemi-thorax. Chest CT with intra-venous contrast demonstrated absence of the right pulmonary artery and lung parenchyma with hyper-inflated left lung and dextro-position of mediastinum. This case emphasizes that in patients with respiratory compliant and chronic cough CXR must be done to rule out similar diagnosis other than asthma.    

  10. Pulmonary Artery Agenesis with Bronchial Asthma

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    Hassan Ghobadi

    2014-05-01

    Full Text Available Unilateral Pulmonary Artery Agenesis (UPAA is a rare congenital anomaly during the 4 th  week of gestational age. It is defined as an absence of pulmonary parenchyma and its supporting artery. A 9-year-old girl was admitted to our hospital because of chronic cough. Chest examination showed a decrement in lung sound of right hemi-thorax with expiratory wheeze. Chest radiography (CXR revealed a semi-opaque right hemi-thorax. Chest CT with intra-venous contrast demonstrated absence of the right pulmonary artery and lung parenchyma with hyper-inflated left lung and dextro-position of mediastinum. This case emphasizes that in patients with respiratory compliant and chronic cough CXR must be done to rule out similar diagnosis other than asthma.    

  11. Mental State Understanding in Children with Agenesis of the Corpus Callosum.

    Science.gov (United States)

    Lábadi, Beatrix; Beke, Anna M

    2017-01-01

    Impaired social functioning is a well-known outcome of individuals with agenesis of the corpus callosum. Social deficits in nonliteral language comprehension, humor, social reasoning, and recognition of facial expression have all been documented in adults with agenesis of the corpus callosum. In the present study, we examined the emotional and mentalizing deficits that contributing to the social-cognitive development in children with isolated corpus callosum agenesia, including emotion recognition, theory of mind, executive function, working memory, and behavioral impairments as assessed by the parents. The study involved children between the age of 6 and 8 years along with typically developing children who were matched by IQ, age, gender, education, and caregiver's education. The findings indicated that children with agenesis of the corpus callosum exhibited mild impairments in all social factors (recognizing emotions, understanding theory of mind), and showed more behavioral problems than control children. Taken together, these findings suggest that reduced callosal connectivity may contribute to the development of higher-order social-cognitive deficits, involving limits of complex and rapidly occurring social information to be processed. The studies of AgCC shed lights of the role of structural connectivity across the hemispheres in neurodevelopmental disorders.

  12. Mental State Understanding in Children with Agenesis of the Corpus Callosum

    Science.gov (United States)

    Lábadi, Beatrix; Beke, Anna M.

    2017-01-01

    Impaired social functioning is a well-known outcome of individuals with agenesis of the corpus callosum. Social deficits in nonliteral language comprehension, humor, social reasoning, and recognition of facial expression have all been documented in adults with agenesis of the corpus callosum. In the present study, we examined the emotional and mentalizing deficits that contributing to the social-cognitive development in children with isolated corpus callosum agenesia, including emotion recognition, theory of mind, executive function, working memory, and behavioral impairments as assessed by the parents. The study involved children between the age of 6 and 8 years along with typically developing children who were matched by IQ, age, gender, education, and caregiver's education. The findings indicated that children with agenesis of the corpus callosum exhibited mild impairments in all social factors (recognizing emotions, understanding theory of mind), and showed more behavioral problems than control children. Taken together, these findings suggest that reduced callosal connectivity may contribute to the development of higher-order social-cognitive deficits, involving limits of complex and rapidly occurring social information to be processed. The studies of AgCC shed lights of the role of structural connectivity across the hemispheres in neurodevelopmental disorders. PMID:28220087

  13. Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography

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    Ali Al Kaissi

    2014-01-01

    Full Text Available Purpose. Mental retardation, mild to severe epilepsy and cerebral palsy often of hemiplegic type are common accompaniments in patients with agenesis/hypoplasia of the corpus callosum. Skeletal deformities of bilateral radiohumeral synostosis, brachydactyly, bilateral elbow dislocation, talipes equinovarus, and juxtacalcaneal accessory bones have been encountered in two unrelated children with agenesis of the corpus callosum. Methods. We report on two unrelated children who presented with the full clinical criteria of agenesis of the corpus callosum. Strikingly, both presented with variable upper and lower limb deformities. The clinical features, radiographic and MRI findings in our current patients, have been compared with previously reported cases identified through a PubMed literature review. Results. Bilateral radiohumeral synostosis associated with pyruvate dehydrogenase deficiency has been encountered in one patient. The other patient manifested bilateral elbow dislocation, coxa valga, talipes equinovarus, and bilateral juxtacalcaneal accessory bones. Conclusion. The constellation of malformation complexes in our current patients have the hitherto not been reported and expanding the spectrum of skeletal deformities in connection with agenesis of the corpus callosum.

  14. An epidemiological study of dental agenesis in a primary health area in Spain: estimated prevalence and associated factors.

    Science.gov (United States)

    Tallón-Walton, Victòria; Nieminen, Pekka; Arte, Sirpa; Carvalho-Lobato, Patricia; Ustrell-Torrent, Josep Maria; Manzanares-Céspedes, Maria Cristina

    2010-07-01

    To evaluate the prevalence of dental agenesis and its possible association with other developmental dental anomalies and systemic entities. Descriptive transversal study, for which 1518 clinical records, of patients visited by the Odontological Service of the Primary Health Centre of Cassà de la Selva (Girona-Spain) between December 2002 and February 2006 were reviewed. The data were recorded in relation to the oral and dental anomalies and the associated systemic entities, between the ones referred as concomitant in literature. Values of 9.48% (7.25% excluding the third molars) for dental agenesis and 0.39% for oligodontia were obtained. The presence of dental agenesis concomitant with some other forms of oral and dental anomalies was observed. Attention must be drawn to the fact that a greater number of concomitant systemic entities were observed in those patients that presented a severe phenotypical pattern of dental agenesis. The results of the present study do not differ from the ones reported in studies of similar characteristics among Occidental and Spanish populations. The relationship observed between certain systemic entities and developmental dental anomalies suggest a possible common genetic etiology.

  15. A Case of Cryptorchidism with Ipsilateral Congenital Unilateral Absence of the Vas Deferens and Contralateral Renal Agenesis

    Science.gov (United States)

    Yu, Young Dong

    2016-01-01

    Introduction and Aims. Congenital absence of the vas deferens is an uncommon anomaly and this clinical condition is responsible for up to 1-2% of male infertility. It can be either unilateral or bilateral and the associated anomalies include cryptorchidism, seminal vesicles and ejaculatory ducts anomalies, and renal anomalies such as renal agenesis. We hereby present a case of congenital unilateral absence of vas deferens, which was found incidentally during an evaluation of undescended testis in a patient with ipsilateral renal agenesis. Case Presentation. A 10-month-old boy was referred to the urology clinic with an undescended right testis. Preoperative abdominal ultrasonography showed agenesis of the right kidney and the absence of right vas deferens and epididymis was confirmed during laparoscopic orchiectomy performed due to short right spermatic cord. There were no other concomitant anomalies of the genitourinary system observed in evaluation. Conclusion. Congenital unilateral absence of the vas deferens with cryptorchidism and renal agenesis is a rare diagnostic entity. Cryptorchidism or absent vas deferens found incidentally should lead the physician to evaluate the status of the contralateral vas deferens and conduct a renal tract ultrasound study. PMID:27597925

  16. Comparison of the dental anomaly frequency in patients with and without mandibular second premolar agenesis

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    Kenan Cantekin

    2015-06-01

    Conclusion: Tooth agenesis, microdontia of maxillary lateral incisor, and taurodontism are frequently associated with agenesis of MP2 as compared with a well matched control group and different populations.

  17. A rare case of penis agenesis (Aphallia with associated multiple urogenital anomalies

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    Zafer Demirer

    2015-01-01

    Full Text Available The penis as a component of external genitalia, takes part in fertility, urinary and psychosexual structure of males with its complex character. We report a case of penis agenesis with associated left renal agenesis, left superior segment ureteral agenesis, prostate agenesis, left ureterocele, right vesicoureteral reflux and high urethrorectal communication above the rectal sphincter. The patient refused any surgical intervention because of his religious beliefs.

  18. Genetic Variants of BMP2 and Their Association with the Risk of Non-Syndromic Tooth Agenesis.

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    Yun Lu

    Full Text Available Non-syndromic tooth agenesis (or non-syndromic congenitally missing tooth is one of the most common congenital defects in humans affecting the craniofacial function and appearance. Single nucleotide polymorphisms (SNPs have been associated with an individual's susceptibility to these anomalies. The aim of the present study was therefore to investigate the roles of the potentially functional SNPs of BMP2 in the occurrence of tooth agenesis. Overall, four potentially functional SNPs of BMP2 (rs15705, rs235768, rs235769 and rs3178250 were selected, and their associations with the susceptibility of tooth agenesis were evaluated in a case-control study of 335 non-syndromic tooth agenesis cases and 444 healthy controls. The SNPs rs15705 and rs3178250 were found to be associated with an individual's risk of tooth agenesis (P = 0.046 and P = 0.039, respectively. Both SNPs showed an increased risk of mandibular incisor agenesis (rs15705, AA/AC vs. CC = 1.58, 95% CI = [1.06-2.34], P = 0.024; rs3178250, TT/TC vs. CC = 1.60, 95% CI = [1.08-2.37], P = 0.020. Bioinformatics analysis indicated that these two SNPs located at the 3'-untranslated region (3'-UTR of BMP2 might alter the binding ability of miR-1273d and miR-4639-5p, respectively, which was confirmed by luciferase activity assays in the 293A and COS7 cell lines (P < 0.001 in 293A and P < 0.01 in COS7 for miR-1273d; and P < 0.001 in both cells for miR-4639-5p. Furthermore, BMP2 mRNA expression decreased after transfecting either miR-1273d or miR-4639-5p into these two cell lines (P < 0.01 in 293A and P < 0.001 in COS7 for miR-1273d, and P < 0.01 in both cell lines for miR-4639-5p. Taken together, our findings indicate that rs15705 and rs317250 are associated with the susceptibility of non-syndromic tooth agenesis by possibly affecting miRNAs and mRNA interaction.

  19. Genetic Variants of BMP2 and Their Association with the Risk of Non-Syndromic Tooth Agenesis

    Science.gov (United States)

    Wang, Yuting; Gu, Ning; Ma, Lan; Xu, Min; Ma, Junqing; Zhang, Weibing; Pan, Yongchu; Wang, Lin

    2016-01-01

    Non-syndromic tooth agenesis (or non-syndromic congenitally missing tooth) is one of the most common congenital defects in humans affecting the craniofacial function and appearance. Single nucleotide polymorphisms (SNPs) have been associated with an individual’s susceptibility to these anomalies. The aim of the present study was therefore to investigate the roles of the potentially functional SNPs of BMP2 in the occurrence of tooth agenesis. Overall, four potentially functional SNPs of BMP2 (rs15705, rs235768, rs235769 and rs3178250) were selected, and their associations with the susceptibility of tooth agenesis were evaluated in a case-control study of 335 non-syndromic tooth agenesis cases and 444 healthy controls. The SNPs rs15705 and rs3178250 were found to be associated with an individual’s risk of tooth agenesis (P = 0.046 and P = 0.039, respectively). Both SNPs showed an increased risk of mandibular incisor agenesis (rs15705, AA/AC vs. CC = 1.58, 95% CI = [1.06–2.34], P = 0.024; rs3178250, TT/TC vs. CC = 1.60, 95% CI = [1.08–2.37], P = 0.020). Bioinformatics analysis indicated that these two SNPs located at the 3’-untranslated region (3’-UTR) of BMP2 might alter the binding ability of miR-1273d and miR-4639-5p, respectively, which was confirmed by luciferase activity assays in the 293A and COS7 cell lines (P < 0.001 in 293A and P < 0.01 in COS7 for miR-1273d; and P < 0.001 in both cells for miR-4639-5p). Furthermore, BMP2 mRNA expression decreased after transfecting either miR-1273d or miR-4639-5p into these two cell lines (P < 0.01 in 293A and P < 0.001 in COS7 for miR-1273d, and P < 0.01 in both cell lines for miR-4639-5p). Taken together, our findings indicate that rs15705 and rs317250 are associated with the susceptibility of non-syndromic tooth agenesis by possibly affecting miRNAs and mRNA interaction. PMID:27362534

  20. MSX1 and orofacial clefting with and without tooth agenesis.

    Science.gov (United States)

    Modesto, A; Moreno, L M; Krahn, K; King, S; Lidral, A C

    2006-06-01

    MSX1 has been considered a strong candidate for orofacial clefting, based on mouse expression studies and knockout models, as well as association and linkage studies in humans. MSX1 mutations are also causal for hereditary tooth agenesis. We tested the hypothesis that individuals with orofacial clefting with or without tooth agenesis have MSX1 coding mutations by screening 33 individuals with cleft lip with or without cleft palate (CL/P) and 19 individuals with both orofacial clefting and tooth agenesis. Although no MSX1 coding mutations were identified, the known 101C > G variant occurred more often in subjects with both CL/P and tooth agenesis (p = 0.0008), while the *6C-T variant was found more often in CL/P subjects (p = 0.001). Coding mutations in MSX1 are not the cause of orofacial clefting with or without tooth agenesis in this study population. However, the significant association of MSX1 with both phenotypes implies that MSX1 regulatory elements may be mutated.

  1. Vaginal agenesis: Experience with sigmoid colon neovaginoplasty

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    Rawat Jiledar

    2010-01-01

    Full Text Available Aim: Objective of this study is to report our experience with sigmoid vaginoplasty in adolescents. Materials and Methods: A retrospective study of children with vaginal atresia and Mayer-Rokitansky-Kuster-Hauser syndrome. The sigmoid segment was used for vaginoplasty in all the cases. Results: Eight children were studied over a period of 7 years. The postoperative complications were ileus in 2, mucosal prolapse of the neovagina in 1, and minor wound infection in 1 patient. Seven patients are on regular follow-up. All the neovaginas were patent and functional. One patient had unacceptable perineal appearance, that is, badly scarred perineum as a late complication. None of the patients had vaginal stenosis or excessive mucus discharge, during follow-up visits. Out of the 7 patients, 2 patients are sexually active and satisfied. Conclusions: Sigmoid vaginoplasty is a safe and acceptable procedure for vaginal agenesis with good cosmetic results and acceptable complications rate. Sigmoid colon vaginoplasty is the treatment of choice because of its large lumen, thick walls resistant to trauma, adequate secretion allowing lubrication, not necessitating prolonged dilatation, and short recovery time.

  2. Agenesis of the gallbladder: A dangerously misdiagnosed malformation

    Institute of Scientific and Technical Information of China (English)

    Nicolas Peloponissios; Michel Gillet; René Cavin; Nermin Halkic

    2005-01-01

    Isolated agenesis of the gallbladder is a rare anomaly,often asymptomatic. However, one patient out of four presented with right upper abdominal pain, nausea, and fatty food intolerance. The condition is frequently mistaken with an excluded or sclero-atrophic gallbladder, regardless of the imaging modality used. Consequently, AG often leads to unnecessary and potentially dangerous laparoscopic surgery as described in a few case reports over the last10 years. The aim of this study is to clarify the diagnostic and therapeutic approach of this unusual pathology. Two cases seen in our institutions were retrospectively reviewed, together with a review of the American and European literature. During laparoscopy, the absence of normal anatomical structures and the impossibility of pulling on the gallbladder to expose and dissect the triangle of Callot increases the risk of iatrogenic injury to biliary or portal structures. Depending on the experiment of the surgeon in laparoscopic procedure, this has to be taken into account to decide a conversion to laparotomy.A high index of suspicion is necessary when interpreting the radiological images. In case of doubt, a MRJ-cholangiography is mandatory. Because of possible inherited transmission,relatives with a history of biliary symptoms should be investigated.

  3. Discordant tooth agenesis and peg-shaped in a pair of monozygotic twins: Clinical and molecular study

    OpenAIRE

    Lívia Azeredo Alves Antunes; Erika Calvano Küchler; Marcelo de Castro Costa; Leonardo Santos Antunes; José Mauro Granjeiro

    2013-01-01

    The present report aimed to study an uncommon case of a pair of twins that presented a discordant dental phenotype. Family investigation, clinical, radiographic examination and molecular analysis were performed in both girls. Molecular analysis confirmed the monozygosity by deoxyribonucleic acid chip technology. One twin presented tooth agenesis in left upper lateral incisor and peg-shaped on the contra lateral side while the other twin had no dental alterations. The dental casts study employ...

  4. Agenesis of mandibular second premolar in patient with dental bimaxillary protrusion.

    Science.gov (United States)

    Tavares, Carlos Alberto Estevanell

    2017-01-01

    The present study reports the treatment carried out in a patient with mandibular second premolar agenesis associated with early loss of a deciduous second molar, deep overbite, severe overjet and dentoalveolar bimaxillary protrusion, which led to lip incompetence and a convex facial profile. The main objectives of this treatment were: to eliminate the spaces in mandibular arch, correct overbite, as well as eliminate bimaxillary protrusion and lip incompetence, thus leading to a balanced profile. The case was presented to the Brazilian Board of Orthodontics and Dentofacial Orthopedics (BBO) as part of the requirements to obtain the title of BBO diplomate.

  5. Gingival Cyst of the Adult: Report of an Inconspicuous Lesion Associated with Multiple Agenesis

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    Juliana Mançano Melhado Brod

    2017-01-01

    Full Text Available Gingival cyst of the adult is a rare slow growing and asymptomatic lesion that arises from the rests of the dental lamina. The present report describes the case of a miniscule adult gingival cyst in the lower anterior gingiva in a 51-year-old male with agenesis of lower premolars and lateral incisors. This paper contrasts the literature concerning the differentiation between the gingival cyst of the adult and the lateral periodontal cysts as well as the possible misguided concept that the former may be such rare an occurrence.

  6. Multidisciplinary approach for the aesthetic treatment of maxillary lateral incisors agenesis: thinking about implants?

    Science.gov (United States)

    de Avila, Érica Dorigatti; de Molon, Rafael Scaf; de Assis Mollo, Francisco; de Barros, Luiz Antonio Borelli; Capelozza Filho, Leopoldino; de Almeida Cardoso, Mauricio; Cirelli, Joni Augusto

    2012-11-01

    Missing maxillary lateral incisors create an esthetic problem with specific orthodontic and prosthetic considerations. Implants are commonly used to replace congenitally missing lateral incisors in adolescent orthodontic patients. However, an interdisciplinary approach should be observed during the diagnosis, prognosis, and treatment plan to provide a result with good predictability and meet the esthetic and functional expectations of the patient. The present study describes a case of a young patient with tooth agenesis of maxillary lateral incisors, which was conducted with an integrated planning. After 5-year follow-up of 2 fixed implant-supported prostheses, clinical and radiographic examination showed the treatment to be successful.

  7. Angle Class II, subdivision, with agenesis of mandibular second molars and extrusion of maxillary second molars

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    Rubens Rodrigues Tavares

    2015-04-01

    Full Text Available This clinical case reports the treatment of an Angle Class II malocclusion in a young woman with a balanced face affected by agenesis of second and third mandibular molars and subsequent extrusion of second maxillary molars. The atypical and peculiar occlusal anomaly led to individualized treatment proposed in order to normalize dental malpositions, with subsequent rehabilitation of edentulous areas by means of a multidisciplinary approach. This case was presented to the Brazilian Board of Orthodontics and Dentofacial Orthopedics (BBO in partial fulfillment of the requirements for obtaining the title of certified by the BBO.

  8. Anterior commissure absence without callosal agenesis: a new brain malformation.

    Science.gov (United States)

    Mitchell, T N; Stevens, J M; Free, S L; Sander, J W; Shorvon, S D; Sisodiya, S M

    2002-04-23

    The authors report a novel human brain malformation characterized by the absence of the anterior commissure without callosal agenesis, but associated with gross unilateral panhemispheric malformation incorporating subependymal heterotopia, subcortical heterotopia, and gyral abnormalities including temporal malformation and polymicrogyria. In contrast, a normal anterior commissure was found in 125 control subjects and in 113 other subjects with a range of brain malformations.

  9. Language and Development in FG Syndrome with Callosal Agenesis.

    Science.gov (United States)

    McCardle, Peggy; Wilson, Bruce

    1993-01-01

    The FG syndrome is characterized by unusual facies; sudden infant death; developmental delay; and abnormalities of the cardiac, gastrointestinal, and central nervous systems. Serial evaluations of one case with isolated agenesis of the corpus callosum found consistent patterns over time in specific language impairments in syntactic and…

  10. Polytopic anomalies with agenesis of the lower vertebral column

    NARCIS (Netherlands)

    Bohring, Axel; Lewin, Susan O.; Reynolds, James F.; Voigtländer, Theda; Rittinger, Olaf; Carey, John C.; Köpernik, Michael; Smith, Rosemarie; Zackai, Elaine H.; Leonard, Norma J.; Gritter, Hilda L.; Bamforth, J. Stephen; Okun, Nannette; McLeod, D. Ross; Super, Maurice; Powell, Peter; Mundlos, Stefan; Hennekam, Raoul C.M.; Van Langen, Irene M.; Viskochil, David H.; Wiedemann, Hans-Rudolf; Opitz, John M.

    1999-01-01

    We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malformation complex. We show that all of these findings a

  11. Esophageal Atresia and Tracheoesophageal Fistula with Unilateral Pulmonary Agenesis - Hypoplasia

    Directory of Open Access Journals (Sweden)

    Shraddha Verma

    2013-03-01

    Full Text Available Association of unilateral severe pulmonary hypoplasia or agenesis and esophageal atresia (EA with or without tracheoesophageal fistula (TEF is an exceedingly rare and highly lethal combination. We report a case of full term male baby who had EA with TEF and right lung hypoplasia, managed at our centre. He is alive and doing well at 10 years of age.

  12. Esophageal Atresia and Tracheoesophageal Fistula with Unilateral Pulmonary Agenesis - Hypoplasia

    Directory of Open Access Journals (Sweden)

    Katragadda Laxmi Narsimha Rao

    2013-04-01

    Full Text Available Association of unilateral severe pulmonary hypoplasia or agenesis and esophageal atresia (EA with or without tracheoesophageal fistula (TEF is an exceedingly rare and highly lethal combination. We report a case of full term male baby who had EA with TEF and right lung hypoplasia, managed at our centre. He is alive and doing well at 10 years of age.

  13. Polytopic anomalies with agenesis of the lower vertebral column

    NARCIS (Netherlands)

    Bohring, Axel; Lewin, Susan O.; Reynolds, James F.; Voigtländer, Theda; Rittinger, Olaf; Carey, John C.; Köpernik, Michael; Smith, Rosemarie; Zackai, Elaine H.; Leonard, Norma J.; Gritter, Hilda L.; Bamforth, J. Stephen; Okun, Nannette; McLeod, D. Ross; Super, Maurice; Powell, Peter; Mundlos, Stefan; Hennekam, Raoul C.M.; Van Langen, Irene M.; Viskochil, David H.; Wiedemann, Hans-Rudolf; Opitz, John M.

    1999-01-01

    We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malformation complex. We show that all of these findings

  14. Assessing prenatal white matter connectivity in commissural agenesis.

    Science.gov (United States)

    Kasprian, Gregor; Brugger, Peter C; Schöpf, Veronika; Mitter, Christian; Weber, Michael; Hainfellner, Johannes A; Prayer, Daniela

    2013-01-01

    Complete or partial agenesis of the corpus callosum are rather common developmental abnormalities, resulting in a wide spectrum of clinical neurodevelopmental deficits. Currently, a significant number of these cases are detected by prenatal sonography during second trimester screening examinations. However, major uncertainties about a detailed morphological diagnosis and the clinical significance do not allow accurate prenatal counselling. Here, we were able to demonstrate the 3D connectivity of aberrant commissural tracts in 16 cases with complete and four cases with partial callosal agenesis using the foetal magnetic resonance imaging techniques of diffusion tensor imaging and tractography in utero and in vivo between gestational weeks 20 and 37. The 'misguided' pre-myelinated callosal axons that represent the bundle of Probst were non-invasively visualized, and they showed a degree of structural integrity similar to that of the callosal pathways of age-matched foetuses without cerebral pathologies. In two foetuses, we were able to prove, by post-mortem histology, that diffusion tensor imaging allows the depiction of the bundle of Probst, even during early stages of pre-myelination at 20 and 22 gestational weeks. In cases with partial callosal agenesis, an aberrant sigmoid-shaped bundle was prenatally depicted, confirming the findings of heterotopic interhemispheric connectivity in adults with partial callosal agenesis. In addition to the corpus callosum, other white matter pathways were also involved, including somatosensory and motor pathways that showed significantly higher fractional anisotropy values in cases with callosal agenesis compared with control subjects. A detailed prenatal assessment of abnormal white matter connectivity in cases of midline anomalies will help to explain and understand the clinical heterogeneity in these cases, taking future foetal neurological counselling strategies to a new level.

  15. Disrupted developmental organization of the structural connectome in fetuses with corpus callosum agenesis.

    Science.gov (United States)

    Jakab, András; Kasprian, Gregor; Schwartz, Ernst; Gruber, Gerlinde Maria; Mitter, Christian; Prayer, Daniela; Schöpf, Veronika; Langs, Georg

    2015-05-01

    Agenesis of the corpus callosum is a model disease for disrupted connectivity of the human brain, in which the pathological formation of interhemispheric fibers results in subtle to severe cognitive deficits. Postnatal studies suggest that the characteristic abnormal pathways in this pathology are compensatory structures that emerge via neural plasticity. We challenge this hypothesis and assume a globally different network organization of the structural interconnections already in the fetal acallosal brain. Twenty fetuses with isolated corpus callosum agenesis with or without associated malformations were enrolled and fiber connectivity among 90 brain regions was assessed using in utero diffusion tensor imaging and streamline tractography. Macroscopic scale connectomes were compared to 20 gestational age-matched normally developing fetuses with multiple granularity of network analysis. Gradually increasing connectivity strength and tract diffusion anisotropy during gestation were dominant in antero-posteriorly running paramedian and antero-laterally running aberrant pathways, and in short-range connections in the temporoparietal regions. In fetuses with associated abnormalities, more diffuse reduction of cortico-cortical and cortico-subcortical connectivity was observed than in cases with isolated callosal agenesis. The global organization of anatomical networks consisted of less segregated nodes in acallosal brains, and hubs of dense connectivity, such as the thalamus and cingulate cortex, showed reduced network centrality. Acallosal fetal brains show a globally altered connectivity network structure compared to normals. Besides the previously described Probst and sigmoid bundles, we revealed a prenatally differently organized macroconnectome, dominated by increased connectivity. These findings provide evidence that abnormal pathways are already present during at early stages of fetal brain development in the majority of cerebral white matter.

  16. Tooth agenesis in patients referred to an Irish tertiary care clinic for the developmental dental disorders.

    LENUS (Irish Health Repository)

    Hashem, Atef A

    2010-01-01

    PURPOSE: This study was carried out to determine the prevalence, severity and pattern of hypodontia in Irish patients referred to a tertiary care clinic for developmental dental disorders. MATERIALS AND METHODS: Details of 168 patients with hypodontia referred during the period 2002-2006 were entered in a database designed as a national record. Tooth charting was completed using clinical and radiographic examinations. The age of patients ranged from 7-50 years, with a median age of 20 years (Mean: 21.79; SD: 8.005). RESULTS: Hypodontia referrals constituted 65.5% of the total referrals. Females were more commonly affected than males with a ratio of 1.3:1. The number of referrals reflected the population density in this area; the majority were referrals from the public dental service. Mandibular second premolars were the most commonly missing teeth, followed by maxillary second premolars and maxillary lateral incisors; maxillary central incisors were the least affected. Symmetry of tooth agenesis between the right and left sides was an evident feature. Slightly more teeth were missing on the left side (n = 725) than on the right side (n = 706) and in the maxillary arch (n = 768) as compared to the mandibular arch (n = 663). Some 54% of patients had severe hypodontia with more than six teeth missing; 32% had moderate hypodontia, with four to six teeth missing. The most common pattern of tooth agenesis was four missing teeth. CONCLUSION: Hypodontia was a common presentation in a population referred to this tertiary care clinic. The pattern and distribution of tooth agenesis in Irish patients appears to follow the patterns reported in the literature.

  17. Severe stenosis of a long tracheal segment, with agenesis of the right lung and left pulmonary arterial sling.

    Science.gov (United States)

    Munro, Hamish M; Sorbello, Andrea M C; Nykanen, David G

    2006-02-01

    A baby presented at term with respiratory distress was managed with extracorporeal membrane oxygenation. Bronchoscopy revealed tracheal hypoplasia, complete tracheal rings, and agenesis of the right main bronchus. Echocardiography showed a left pulmonary arterial sling arising from the proximal part of the right pulmonary artery. Cardiac catheterization demonstrated abnormal pulmonary vasculature in the left lung which would have prevented survival, even after surgical repair. Diagnostic catheterization was important in delineating the anatomy, and aided in the decision not to proceed with surgical repair.

  18. The effects of callosal agenesis on the susceptibility to seizures elicited by pentylenetetrazol in BALB/cCF mice.

    Science.gov (United States)

    Medina, Alexandre E; Manhães, Alex C; Schmidt, Sergio L

    2002-01-01

    The effects of callosal agenesis in sensitivity to pentylenetetrazol (PTZ) were studied in 199 (95 males and 104 females) mice of the BALB/cCF strain. This strain presents agenesis of the corpus callosum (CC) in approximately 30% of its population. Seizures were elicited by intraperitoneally injected PTZ. Animals were tested with doses of 40 and 50 mg/kg. Seizure severity was expressed by the following scoring scale: 0 (no abnormal behavior, NAB); 1 (myoclonus, M); 2 (running bouncing clonus, RBC); 3 (tonic hindlimb extension, THE). For the 40-mg/kg dose, abnormal mice were found to be more susceptible, displaying more severe seizures more often then normal mice. Normal female mice were also more susceptible to PTZ than males for this dose. No significant differences were found for the 50-mg/kg dose as a result of the fact that most animals displayed RBC. These data indicate that callosal development and sex are important factors affecting seizure susceptibility.

  19. Congenital rubella with agenesis of the inferior cerebellar vermis and total anomalous pulmonary venous drainage.

    Science.gov (United States)

    Cluver, C; Meyer, R; Odendaal, H; Geerts, L

    2013-08-01

    Congenital rubella infection has been associated with a number of abnormalities including cardiac, central nervous system and placental complications. We present a case with multiple fetal abnormalities detected on prenatal ultrasound, and confirmed postnatally, that included a single umbilical artery, severe tricuspid regurgitation, micrognathia and agenesis of the inferior cerebellar vermis. Postnatal echocardiography additionally revealed unobstructed total anomalous pulmonary venous drainage (TAPVD) into the coronary sinus. Placental examination showed signs of placentitis, and polymerase chain reaction on neonatal serum was positive for rubella. Following a multidisciplinary team review, it was decided to provide only supportive care, and the infant died at 6 months of age owing to a respiratory tract infection. To our knowledge, TAPVD and agenesis of the inferior cerebellar vermis have not been reported previously in association with congenital rubella infection. This case illustrates how congenital infection may present in atypical ways and stresses the importance of considering congenital infection in the differential diagnosis of fetal anomalies when multiple features are present.

  20. Congenital agenesis of inferior vena cava: a rare cause of unprovoked deep venous thrombosis.

    Science.gov (United States)

    Parsa, Pouria; Lane, John S; Barleben, Andrew R; Owens, Erik L; Bandyk, Dennis

    2015-07-01

    Congenital anomalies of the inferior vena cava (IVC), although rare, are a risk factor for lower limb deep venous thrombosis (DVT). A 19-year-old male presented with a left flank and groin pain caused by iliofemoral venous thrombosis. Vascular imaging by computed tomography (CT) scanning and venography demonstrated agenesis of the IVC. Catheter-directed thrombolysis via a popliteal vein was attempted but did not alter the patency of the common femoral vein outflow collaterals into the retroperitoneal azygous venous system. The patient was anticoagulated using systemic heparin infusion and clinical symptoms resolved within 5 days. He was transitioned to oral Coumadin anticoagulation, and follow-up venous duplex testing demonstrated no infrainguinal DVT and phasic venous flow with respiration in the femoral vein indicating patent collateral veins. Anomalies of the IVC are present in 0.3-0.5% of otherwise healthy individuals. Agenesis of the IVC has an incidence of 0.0005-1% in the general population but is found in almost 5% of patients venous collaterals on noncontrast CT imaging. In young adults presenting with unprovoked lower limb DVT, the presence of an IVC anomaly should be considered and evaluated for by venous duplex testing and if necessary CT venography.

  1. Hind brain agenesis a rare imaging findings in cerebro cerebellar lissencephalic syndrome.

    Science.gov (United States)

    Mundaganur, Praveen M; Solwalkar, Pradeep; Nimbal, Vishal

    2014-01-01

    A case report of cerebro cerebellar lissencephaly shows complete agenesis of cerebellum and brainstem which is rare imaging finding of group lissencephaly (type I lissencephaly). Though agenesis of cerebellum and brainstem were included in literature, in most of the cases we saw a hypoplasia or atrophy of cerebellum in lissencephaly syndrome. The CT scan findings of this patient shows features of lissencephaly with complete agenesis of brain stem and cerebellum associated with multiple congenital abnormalities.

  2. Deep Venous Thrombosis of the Leg, Associated with Agenesis of the Infrarenal Inferior Vena Cava and Hypoplastic Left Kidney (KILT Syndrome in a 14-Year-Old Child

    Directory of Open Access Journals (Sweden)

    Sakshi Bami

    2015-01-01

    Full Text Available Agenesis of the inferior vena cava (IVC is a rare anomaly which can be identified as incidental finding or can be associated with iliofemoral vein thrombosis. IVC agenesis has a known association with renal anomalies which are mainly confined to the right kidney. We describe a case of a 14-year-old male who presented with left leg swelling and pain. Ultrasonography confirmed the presence of left leg deep vein thrombosis (DVT. No underlying hematologic risk factors were identified. A CT scan was obtained which demonstrated absent infrarenal IVC and extensive thrombosis in the left deep venous system and development of collateral venous flow into the azygous/hemiazygous system, with extension of thrombus into paraspinal collaterals. An additional finding in the patient was an atrophic left kidney and stenosis of an accessory left renal artery. Agenesis of the IVC should be considered in a young patient presenting with lower extremity DVT, especially in patients with no risk factors for thrombosis. As agenesis of the IVC cannot be corrected, one should be aware that there is a lifelong risk of lower extremity DVT.

  3. Congenital agenesis of the superficial posterior compartment calf muscles in a 13-month-old infant.

    Science.gov (United States)

    Kang, Jin Young; Jang, Dae-Hyun

    2014-11-01

    Muscle agenesis may induce cosmetic and functional deficits, particularly if the muscle is an axial limb or a large muscle. Limb muscle agenesis is a rare condition. Here, the authors report the case of a 13-mo-old girl with unilateral atrophic calf and gait abnormality. Magnetic resonance imaging confirmed agenesis of the posterior superficial compartment of the calf. The patient showed an out-toeing calcaneal gait and fibular length discrepancy secondarily during growth. Normal embryology and the differential diagnostic point of foot deformity as well as the clinical implications of calf agenesis are described.

  4. Agenesis of the ductus venosus and its correlation to hydrops fetalis.

    Science.gov (United States)

    Hoppen, T; Hofstaetter, C; Plath, H; Kau, N; Bartmann, P

    2000-01-01

    Absence of the ductus venosus is a rare vascular anomaly. We report a late onset of a hydrops fetalis seen in a fetus at 34 completed weeks of gestation. A persistence of the cranial parts of the left and right umbilical veins and of the paired cranial vitelline veins with an absent ductus venosus led to a bilateral hydrothorax, ascites and skin-edema. Postnatally the hydrops resolved within 7 days most probably due to the change from the fetal to the adult circulation. The abnormal venous system was confirmed by angiography. Agenesis of the ductus venosus can manifest in two different morphologic patterns: The umbilical vein drains exclusively into the left branch of the intrahepatic portal vein or the umbilical vein drains into the inferior vena cava or directly into the right atrium by-passing the liver completely. In both patterns, the preferential direction of the flow towards the foramen ovale is not present. While the first pattern leads to hyperperfusion of the liver parenchyma, the latter would result in reduced perfusion and oxygenation. Our findings suggest that agenesis of ductus venosus might induce hydrops fetalis. We conclude, that in every case of hydrops fetalis the venous system should be evaluated by ultrasonography prenatally and/or immediately postnatally.

  5. Interhemispheric transfer of kinesthetic information and line bisection task performance in patient with callosal agenesis.

    Science.gov (United States)

    Makashvili, M; Chichinadze, K; Domianidze, T

    2009-09-01

    Patient G.J., male, 7 yrs, with callosal agenesis, was found perfectly able to cross-replicate hand postures in right-to left and left-to-right directions. Bimanual coordination as well as touch localization and intermanual matching were performed without errors. He failed to name 2 out of 8 objects, palpated with the left hand. At the age of 13 patient performed like normal controls in line bisection task, was successful in intermanual replication of hand postures and intermanual matching while failed to name 8 out of 12 familiar objects palpated with the left hand. G.J.'s case does not support idea about bilateral presentation of language centers and development of compensatory ipsilateral afferents in patients with callosal agenesis. Presence of anterior and interictal commissures in G.J. did not contribute to the exchange of information between sensory areas of the right hemisphere and language centers of the left half brain. However, normal intermanual matching and replication of hand postures, as well as high level of line bisection task performance suggests, that anterior and/or intertectal commissure could contribute to the functional integration of sensory areas of the two hemispheres.

  6. Cornelia de lange syndrome with thyroid agenesis of an indonesian patient.

    Science.gov (United States)

    Maskoen, A M; Laksono, B; Hajjah, R; Zada, A; Suciati, L P; Fauziah, P N; Nataprawira, H M

    2017-08-30

    Cornelia de Lange syndrome (CdLs), which is also called Brachmann de Lange syndrome, is a congenital disorder characterized by distinctive facial features, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities. The prevalence ranges from 1:100,000 to as high as 1:10,000. Most cases (50-60%) were carried mutation in NIPBL gene. To our knowledge this is the first CdLs Indonesian case that reported with molecular analysis study. We present an 11 months old female Indonesian patient with classic CdLs with congenital hypothyroid. Genetics studies were performed in intron 1, exon 2, exon 10 and exon 22 of NIPBL gene. Thyroid studies (T3, T4, TSH and thyroid scan) were performed. Low level of T3 and T4, and high level of TSH were observed. Thyroid agenesis was found in thyroid scan examination. We detected thyroid agenesis which has been never reported in CdLs patients. We could not find any mutation in intron 1, exon 2, exon 10 and exon 22 of NIPBL gene. Further genetics examinations were necessary whether there is mutation in other locus.

  7. Right pulmonary artery agenesis and coronary-to-bronchial artery aneurysm.

    Science.gov (United States)

    De Dominicis, Florence; Leborgne, Laurent; Raymond, Alexandre; Berna, Pascal

    2011-03-01

    Isolated unilateral pulmonary artery agenesis is a rare congenital anomaly that may be complicated with hemoptysis, recurrent pulmonary infections or pulmonary hypertension. To our knowledge the occurrence of a coronary syndrome associated with a coronary-to-bronchial artery saccular aneurysmal collateralization has never been described before. A 44-year-old female presented a congenital right pulmonary artery agenesis associated with a hypotrophic and multicystic right lung complicated with recurrent bronchitis. This patient had a coronary syndrome for which the coronary artery imaging showed a coronary-to-bronchial artery collateralization with an aneurysm at this level. It gives rise to a coronary syndrome by coronary steal. Two bronchial collaterals arising from a diaphragmatic artery and the subclavian artery were also found on the computed tomography (CT)-scan. This last collateral also showed another saccular aneurysm. We first performed an embolization of those two aneurysms in order to decrease the risk of hemorrhage and coronary steal, before performing a right pneumonectomy. In this case, the surgery was indicated because of the pathological lung and the risk of postembolization ischaemia. The postoperative course was uneventful and the patient was doing well six months later.

  8. PSYCHO-MOTRIC REHABILITATION IN CHILDREN WITH AGENESIS OF CORPUS CALLOSUM (Case study

    Directory of Open Access Journals (Sweden)

    Zărnica I. Manuela Mirela

    2011-12-01

    Full Text Available Agenesis of corpus callosum is a new challenge for the puluridisciplinary team, in their efforts for the rehabilitation of childrens with this diagnose, because is a rare congenital desease with an unknown frequence of emergence. Scope. This paperwork aims to present the approach modalities of the child with agenesis of corpus callousum and the means of physical therapy that may help. Methods. This is a case study of a 5 years old girl with asenesis of corpus callosum. For assessment we used motor assessment, range of motion, reflexes. Exercises from different positions were done as games and motric songs. Sensory stimulation was also done. Rezults. By direct observation of the patient we observed significant improvement in motor function. We also foud unexpected improvement of quiet stance and dynamic balance, sensory-motor coordination. Conclusions. Game, tha main therapeutic method through its form, diversity and characteristics - atractivity, directness, creativity, movement freedom – is the main supplement of child psicho-motric development. A balanced distribution of influences upon motricity, psychic, thinking and action, nonverbal and expression language, represent the qualitative peculiarity of specialist’s and parents efforts.

  9. MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

    Science.gov (United States)

    Bader, Ingrid; Decker, E; Mayr, J A; Lunzer, V; Koch, J; Boltshauser, E; Sperl, W; Pietsch, P; Ertl-Wagner, B; Bolz, H; Bergmann, C; Rittinger, O

    2016-08-01

    Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia, cognitive impairment and ocular motor apraxia. The "molar tooth sign" is pathognomonic of this condition. Mutations in the MKS1 gene are a major cause of Meckel-Gruber syndrome (MKS), the most common form of syndromic neural tube defects, frequently resulting in perinatal lethality. We present the phenotype and genotype of a child with severe JS and agenesis of the corpus callosum (ACC). In our patient, a next generation sequencing (NGS) approach revealed the following two variants of the MKS1 gene: first, a novel missense variant [ c.240G > T (p.Trp80Cys)], which affects a residue that is evolutionarily highly conserved in mammals and ciliates; second, a 29 bp deletion in intron 15 [c.1408-35_1408-7del29], a founder mutation, which in a homozygous state constitutes the major cause of MKS in Finland. We review the MKS1-variants in all of the eleven JS patients reported to date and compare these patients to our case. To our knowledge, this is the first patient with Joubert syndrome and agenesis of the corpus callosum where a potentially causal genotype is provided. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  10. The role of the anterior commissure in callosal agenesis.

    Science.gov (United States)

    Barr, Melodie S; Corballis, Michael C

    2002-10-01

    Two individuals with callosal agenesis (J.P. and M.M.) and 10 neurologically normal participants were tested on tasks requiring interhemispheric visual integration. M.M., whose anterior commissure was within normal limits, was much worse at matching colors and letters between visual fields than within visual fields, whereas J.P., whose anterior commissure was greatly enlarged, showed no evidence of interhemispheric disconnection. This suggests that in some cases of callosal agenesis, probably a minority, an enlarged anterior commissure may compensate for the lack of the corpus callosum. Neither acallosal participant showed interhemispheric disconnection on tasks requiring integration of location and orientation, however, suggesting that the anterior commissure plays no role in such tasks. These tasks may depend on subcortical commissures, such as the intertectal commissure.

  11. Unilateral primary pulmonary agenesis and hypoplasia in monozygotic twins.

    Science.gov (United States)

    Alsaadi, Muslim; Al Muqhem, Badr; Boukai, A; Iqbal, Shaikh M

    2012-01-01

    We describe 10-month-old identical female twin infants, one with primary left-sided pulmonary agenesis and the other with primary left-sided pulmonary hypoplasia. They came to our outpatient clinic complaining of persistent dry cough. The clinical examination revealed decreased air entry over the left hemithorax. Chest x-rays showed complete left-sided radio-opacity in both the twins. The chest computed tomography scan with contrast confirmed the diagnoses of left-sided pulmonary agenesis (twin A) and left-sided hypoplasia (twin B). No other associated congenital anomaly was noted in either of the twins. To our knowledge, such a condition in live monozygotic twins has not been previously reported in published studies.

  12. Corpus callosum agenesis: Role of fetal magnetic resonance imaging

    Directory of Open Access Journals (Sweden)

    Achour Radhouane

    2016-05-01

    Full Text Available Corpus callosum agenesis (CCA was evaluated by ultrasound examination and magnetic resonance imaging (MRI with many studies. Ultrasonography was able to suspect CCA by indirect signs but a definitive diagnosis of CCA was achieved in rare cases. MRI was able to diagnose complete CCA in majority of cases. Additional neurological abnormalities including heterotopia, gyration anomaly, asymmetry of the cerebral hemispheres, and Dandy-Walker variant were documented, as well as an ocular anomaly which was described, by MRI examination. Prenatal counseling for fetal agenesis of the corpus callosum is difficult as the prognosis is uncertain. The association with other cerebral abnormalities increases the likelihood of a poor outcome and ultrasonographic assessment of the fetal brain is limited. We found MRI to be a safe and useful additional procedure to complement ultrasonographic diagnosis or suspicion of CCA.

  13. Meckel-Gruber Syndrome with unilateral renal agenesis.

    Science.gov (United States)

    Uysal, Fatma; Uysal, Ahmet

    2015-04-01

    Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial polydactyly, and enlarged polycystic kidney dysplasia. With a recurrence risk of 25% this lethal syndrome can be detected in early screening by ultrasound. However, to the authors' knowledge, association of MKS with unilateral renal agenesis was reported only once until now. Here, we describe a case of 26-year primigravida with 23 weeks pregnancy whose detailed sonographical examination of the fetus revealed large encephalocele through the posterior fontanelle microcephaly, anhydramnios, unilateral left enlarged polycystic kidney and right sided renal agenesis. The pregnancy was wilfully terminated on medical grounds. Risk for subsequent pregnancies was explained to the parents.

  14. [Rare case of bilateral pulmonary agenesis and prenatal diagnosis].

    Science.gov (United States)

    Veluppillai, C; Jossic, F; Quéré, M-P; Philippe, H-J; Le Vaillant, C

    2014-01-01

    Bilateral pulmonary agenesis (BPA) is a rare congenital lung malformation. The prognosis is severe as it is incompatible with extra-uterine life. Although multiple prenatal imaging modalities are developed, the prenatal diagnosis of BPA remains problematic. We report a case of BPA observed in our unity and for which the diagnosis was not clearly identified during the evaluation. This report illustrates the need to consider all the imaging aspects and particularly during US examination suspecting BPA.

  15. Angle Class I malocclusion and agenesis of lateral incisors

    OpenAIRE

    2011-01-01

    p. 137-147 Orthodontic planning for patients with agenesis of lateral incisors should include extremely relevant esthetic and functional considerations so that a satisfactory clinical result is achieved. Both space closure and space opening or maintenance have advantages and disadvantages that should be evaluated according to the patient's individual characteristics. Some of the important factors that affect planning are the skeletal pattern, the type of malocclusion and the color and shap...

  16. Aphallia (Penile agenesis: A preliminary report of three cases

    Directory of Open Access Journals (Sweden)

    Prashant Sadashiv Patil

    2017-01-01

    Full Text Available Aphallia (penile agenesis is an extremely rare abnormality with the reported incidence of 1 in 30 million births. The cause of this anomaly is associated with no genital tubercle formation or its development impairment. The majority of patients have 46XY Karyotype. The scrotum, testes and testicular function are usually normal. We report the preliminary experience with 3 cases of aphallia in different age groups along with a review of the literature.

  17. Dental development and tooth agenesis in children with velocardiofacial syndrome.

    Science.gov (United States)

    Heliövaara, Arja; Rantanen, Irma; Arte, Sirpa

    2011-11-01

    BACKGROUND. Variations in dental development and tooth agenesis have been reported in children with velocardiofacial syndrome (VCFS). AIM. The aim was to evaluate the dental development and missing permanent teeth in children with VCFS. DESIGN. Forty-five children (23 girls) with VCFS who had visited the cleft palate and craniofacial centre were studied retrospectively from orthopantomograms taken at the mean age of 7.9 years (range 5.8-12.9). Thirteen of the children with VCFS had palatal clefts. The deletion of 22q11 was verified by FISH techniques. The dental stages were assessed by the method of Demirjian, and the dental age was calculated according to the Finnish dental maturity reference values. A paired Student's t-test was used in the statistical analysis. RESULTS. Eight children (17%), four with palatal clefts, had tooth agenesis. Four children (9%) had agenesis of mandibular incisors. The missing teeth (n = 19) were mainly mandibular incisors (n = 6), maxillary lateral incisors (n = 2), and maxillary second premolars (n = 4). The dental age of the children with VCFS was not different from their chronological age, but there was great individual variation. CONCLUSIONS. A high prevalence of missing permanent teeth, especially mandibular incisors, was observed. The need for thorough clinical and radiological dental examination in children with VCFS is emphasized. © 2011 The Authors. International Journal of Paediatric Dentistry © 2011 BSPD, IAPD and Blackwell Publishing Ltd.

  18. Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review.

    Science.gov (United States)

    Tallón-Walton, Victoria; Manzanares-Céspedes, Maria-Cristina; Carvalho-Lobato, Patricia; Valdivia-Gandur, Ivan; Arte, Sirpa; Nieminen, Pekka

    2014-05-01

    In the present study, it is describe the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities. Six families affected by severe tooth agenesis associated with other dental anomalies and systemic entities were included. Oral exploration, radiological examination, medical antecedents consideration and mutational screening for PAX9 and MSX1 were carried out. No mutations were discovered despite the fact that numerous teeth were missing. An important phenotypical variability was observed within the probands, not being possible to establish a parallelism with the patterns associated to previously described PAX9 and MSX1 mutations. CONCLUSIONS; These results bring us to conclude that probably other genes can determine phenotypical patterns of dental agenesis in the families studied, different than the ones described in the mutations of PAX9 and MSX1. Moreover, epigenetic factors can be involved, as those that can reduce gene dosage and other post-transcriptional modulation agents, causing dental agenesis associated or not with systemic anomalies.

  19. Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.

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    Sirpa Arte

    Full Text Available Failure to develop complete dentition, tooth agenesis, is a common developmental anomaly manifested most often as isolated but also as associated with many developmental syndromes. It typically affects third molars or one or few other permanent teeth but severe agenesis is also relatively prevalent. Here we report mutational analyses of seven candidate genes in a cohort of 127 probands with non-syndromic tooth agenesis. 82 lacked more than five permanent teeth excluding third molars, called as oligodontia. We identified 28 mutations, 17 of which were novel. Together with our previous reports, we have identified two mutations in MSX1, AXIN2 and EDARADD, five in PAX9, four in EDA and EDAR, and nine in WNT10A. They were observed in 58 probands (44%, with a mean number of missing teeth of 11.7 (range 4 to 34. Almost all of these probands had severe agenesis. Only few of the probands but several relatives with heterozygous genotypes of WNT10A or EDAR conformed to the common type of non-syndromic tooth agenesis, incisor-premolar hypodontia. Mutations in MSX1 and PAX9 affected predominantly posterior teeth, whereas both deciduous and permanent incisors were especially sensitive to mutations in EDA and EDAR. Many mutations in EDAR, EDARADD and WNT10A were present in several families. Biallelic or heterozygous genotypes of WNT10A were observed in 32 and hemizygous or heterozygous genotypes of EDA, EDAR or EDARADD in 22 probands. An EDARADD variant were in seven probands present together with variants in EDAR or WNT10A, suggesting combined phenotypic effects of alleles in distinct genes.

  20. Presentation

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    Paulo Henrique Freire Vieira

    2013-12-01

    Full Text Available This dossier focuses on one of the essential debate topics today about the territorial dimension of the new development strategies concerned with the worsening of the global socioecological crisis, that is: the challenges related to the activation and integration in networks of localized agri-food systems. For its composition, some contributions presented and debated during the VI International Conference on Localized Agri-food System - The LAFS facing the opportunities and challenges of the new global context have been gathered. The event took place in the city of Florianópolis, from May 21th to 25th of 2013. The event was promoted by the Federal University of Santa Catarina (UFSC and by the Center for the International Cooperation on Agricultural Research for Development (CIRAD. Besides UFSC and CIRAD, EPAGRI, State University of Santa Catarina (UDESC, as well as research institutes and universities from other states (UFMG, IEA/SP, UFS, UFRGS and Mexican and Argentinian partners from the RED SIAL Latino Americana also participated in the organization of lectures, discussion tables and workshops.

  1. Presentation

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    Eduardo Vicente

    2013-06-01

    Full Text Available In the present edition of Significação – Scientific Journal for Audiovisual Culture and in the others to follow something new is brought: the presence of thematic dossiers which are to be organized by invited scholars. The appointed subject for the very first one of them was Radio and the invited scholar, Eduardo Vicente, professor at the Graduate Course in Audiovisual and at the Postgraduate Program in Audiovisual Media and Processes of the School of Communication and Arts of the University of São Paulo (ECA-USP. Entitled Radio Beyond Borders the dossier gathers six articles and the intention of reuniting works on the perspectives of usage of such media as much as on the new possibilities of aesthetical experimenting being build up for it, especially considering the new digital technologies and technological convergences. It also intends to present works with original theoretical approach and original reflections able to reset the way we look at what is today already a centennial media. Having broadened the meaning of “beyond borders”, four foreign authors were invited to join the dossier. This is the first time they are being published in this country and so, in all cases, the articles where either written or translated into Portuguese.The dossier begins with “Radio is dead…Long live to the sound”, which is the transcription of a thought provoking lecture given by Armand Balsebre (Autonomous University of Barcelona – one of the most influential authors in the world on the Radio study field. It addresses the challenges such media is to face so that it can become “a new sound media, in the context of a new soundscape or sound-sphere, for the new listeners”. Andrew Dubber (Birmingham City University regarding the challenges posed by a Digital Era argues for a theoretical approach in radio studies which can consider a Media Ecology. The author understands the form and discourse of radio as a negotiation of affordances and

  2. Presentation

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    Helmut Renders

    2008-10-01

    Full Text Available We present to our esteemed readers the second edition of our journal for 2008. We have chosen the theme “The life and work of Prof. Dr. Jürgen Moltmann” as its special emphasis. It is our way to pay homage to J. Moltmann in the year the Universidade Metodista de São Paulo awards him an honorary Doctor Honoris Causa degree. Sincethe seventies, Moltmann and Latin America have been in dialog. In his emblematic work “A Theology of Liberation”, Gustavo Gutiérrez, the Catholic, discussed with Moltmann, the Reformed, the relationship between eschatology and history (GUTIÉRREZ, Gustavo.Teologia da Libertação. 5ª edição. Petrópolis, RJ: Vozes, 1985, p. 27, 137-139. A dialog held in the premises of IMS, which nowadays is called UMESP, has produced the little book “Passion for life” (MOLTMANN, Jürgen. Paixão pela vida. São Paulo, SP: ASTE - Associaçãode Seminários Teológicos Evangélicos, 1978.In the following years, the wide theological work of J. Moltmann went all the way from debates to congresses and has conquered the classrooms. Most probably, J. Moltmann is nowadays the most widely read European author in Brazilian theological seminaries. Thisrecognition can only be held in unison and the wide response to our request for articles confirms the huge repercussion that Moltmann’s work has been having up to today in Brazil. The ecumenical theologian J. Moltmann is ecumenically read. We believe that thisway we may be better equipped to answer to anyone who asks us for the reason there is hope in us. We have organized the articles on J. Moltmann’s theology according to the original publication date of the books dealt with in each essay. We also communicate that some articles which were originally requested for this edition of the journal will be published in the journal Estudos de Regilião in May 2009.As it is usual with the journal Caminhando, we have, besides this thematic emphasis, yet other contributions in the areas of

  3. Agenesis of maxillary lateral incisor in an Angle Class II, Division 1 malocclusion patient

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    Guilherme Thiesen

    2015-10-01

    Full Text Available The present case report describes the orthodontic treatment of a patient with agenesis of maxillary left lateral incisor and Angle Class II, Division 1 malocclusion. The patient also presented with maxillary midline deviation and inclination of the occlusal plane in the anterior region. Treatment objectives were: correction of sagittal relationship between the maxilla and the mandible; correction of midline deviation, so as to cause maxillary and mandibular midlines to coincide; correction of overbite and leveling of the occlusal plane, so as to create ideal conditions for esthetic rehabilitation of anterior teeth. This case was presented to the Brazilian Board of Orthodontics and Dentofacial Orthopedics (BBO as a requirement for the title of certified by the BBO.

  4. Presentation

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    Nicanor Lopes

    2010-11-01

    Full Text Available The Journal Caminhando debuts with a new editorial format: eachmagazine will have a Dossier.In 2010 Christianity celebrated the centenary of Edinburgh. TheWorld Missionary Conference in Edinburgh in 1910 is regarded by manyas missiological watershed in the missionary and ecumenical movement.So the Faculty of Theology of the Methodist Church (FATEO decidedto organize a Wesleyan Week discussing the issue of mission. For anevent of this magnitude FATEO invited the Rev. Dr. Wesley Ariarajah,Methodist pastor and teacher of Sri Lanka with extensive experience inpastoral ministry in local churches and professor of History of Religionsand the New Testament at the Theological College of Lanka, maintainedby the Protestant Churches in Sri Lanka. In 1981 he was invited to jointhe World Council of Churches, where he presided for over ten years theCouncil of Interreligious Dialogue. From 1992 he served as Deputy GeneralSecretary of the WCC.The following texts are not the speeches of the Rev. Dr. WesleyAriarajah, for they will be published separately. Nevertheless, the journaldialogs with the celebrations of the centenary of Edinburgh, parting formthe intriguing theme: "Mission in the 21st century in Brazil". After all, howis it that mission takes place among us in personal, church, and communityactivities?Within the Dossier, as common to the journal, the textos are organizedas follows: Bible, Theology / History and Pastoral Care. Other items thatdo not fit within the Dossier, but, do articulate mission, can be found inthe section Declarations and Documents and Book Reviews.The authors of the Dossier have important considerations in buildinga contemporary missiological concept considering Brazilian reality.Anderson de Oliveira, in the Bible-Section, presents a significantexegeses of Matthew 26.6-13. What does it mean when Jesus is quotedwith the words: "For the poor always ye have with you, but me ye havenot always." Is this declaration challenging the gospels

  5. Repair of a ventricular septal defect in a patient with left lung agenesis.

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    Guo, Hong-Wei; Pan, Shi-Wei; Song, Yun-Hu; Hu, Sheng-Shou

    2011-09-01

    Congenital heart disease combined with lung agenesis is extremely rare. We report a case of a 5-year-old female with a ventricular septal defect (VSD) and left lung agenesis with severe pulmonary hypertension who underwent successful closure of the VSD. 

  6. Discordant tooth agenesis and peg-shaped in a pair of monozygotic twins: Clinical and molecular study.

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    Antunes, Lívia Azeredo Alves; Küchler, Erika Calvano; Costa, Marcelo de Castro; Antunes, Leonardo Santos; Granjeiro, José Mauro

    2013-11-01

    The present report aimed to study an uncommon case of a pair of twins that presented a discordant dental phenotype. Family investigation, clinical, radiographic examination and molecular analysis were performed in both girls. Molecular analysis confirmed the monozygosity by deoxyribonucleic acid chip technology. One twin presented tooth agenesis in left upper lateral incisor and peg-shaped on the contra lateral side while the other twin had no dental alterations. The dental casts study employed digital caliper to compare morphological dimensions and showed alteration only in peg-shaped tooth. In conclusion, this study provide support that one or more mutated gene could cause discordances in dental phenotype in these monozygotic twins.

  7. Clinical and MRI findings of cerebellar agenesis in two living adult patients

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    Fazil Mustafa Gelal

    2016-01-01

    Full Text Available Cerebellar agenesis (CA is an extremely rare entity. We present two adult patients with CA. The 61-year-old man had ataxia, dysarthria, abnormalities in cerebellar tests, severe cognitive impairment, and moderate mental retardation. The 26-year-old woman had dysmetria, dysdiadochokinesia, and dysarthria as well as mild cognitive impairment and mild mental retardation. Magnetic resonance imaging (MRI showed complete absence of the cerebellum with small residual vermis. Brainstem was hypoplastic and structures above tentorium were normal. Supratentorial white matter bundles were unaffected in diffusion tensor tractography. Only few adult patients with CA have so far been published. These cases show that patients with CA present with a variety of developmental, clinical, and mental abnormalities; and emphasize the role of the cerebellum in normal motor, language, and mental development.

  8. Multivariate analysis of factors affecting presence and/or agenesis of third molar tooth.

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    Mohammad Khursheed Alam

    Full Text Available To investigate the presence and/or agenesis of third molar (M3 tooth germs in orthodontics patients in Malaysian Malay and Chinese population and evaluate the relationship between presence and/or agenesis of M3 with different skeletal malocclusion patterns and sagittal maxillomandibular jaw dimensions. Pretreatment records of 300 orthodontic patients (140 males and 160 females, 219 Malaysian Malay and 81 Chinese, average age was 16.27±4.59 were used. Third-molar agenesis was calculated with respect to race, genders, number of missing teeth, jaws, skeletal malocclusion patterns and sagittal maxillomandibular jaw dimensions. The Pearson chi-square test and ANOVA was performed to determine potential differences. Associations between various factors and M3 presence/agenesis groups were assessed using logistic regression analysis. The percentages of subjects with 1 or more M3 agenesis were 30%, 33% and 31% in the Malaysian Malay, Chinese and total population, respectively. Overall prevalence of M3 agenesis in male and female was equal (P>0.05. The frequency of the agenesis of M3s is greater in maxilla as well in the right side (P>0.05. The prevalence of M3 agenesis in those with a Class III and Class II malocclusion was relatively higher in Malaysian Malay and Malaysian Chinese population respectively. Using stepwise regression analyses, significant associations were found between Mx (P<0.05 and ANB (P<0.05 and M3 agenesis. This multivariate analysis suggested that Mx and ANB were significantly correlated with the M3 presence/agenesis.

  9. Rubinstein-Taybi syndrome with agenesis of corpus callosum.

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    Mishra, Shubhankar; Agarwalla, Sunil Kumar; Potpalle, Dnyaneshwar Ramesh; Dash, Nishant Nilotpal

    2015-01-01

    Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder with characteristic morphological anomaly. Our patient was a 4.5-year-old girl came with features like broad thumbs, downward slanting palpebral fissures and mental retardation. Systemic abnormalities such as repeated infection, seizure with developmental delay were also associated with it. She was having head banging behavior abnormal slurring speech, incoordination while transferring things from one hand to other. Galaxy of clinical pictures and magnetic resonance imaging report helped to clinch the diagnosis as a case of "RSTS with corpus callosal agenesis" which to the best of our knowledge has never been reported in past from India.

  10. Rubinstein-Taybi syndrome with agenesis of corpus callosum

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    Shubhankar Mishra

    2015-01-01

    Full Text Available Rubinstein-Taybi syndrome (RSTS is a rare genetic disorder with characteristic morphological anomaly. Our patient was a 4.5-year-old girl came with features like broad thumbs, downward slanting palpebral fissures and mental retardation. Systemic abnormalities such as repeated infection, seizure with developmental delay were also associated with it. She was having head banging behavior abnormal slurring speech, incoordination while transferring things from one hand to other. Galaxy of clinical pictures and magnetic resonance imaging report helped to clinch the diagnosis as a case of "RSTS with corpus callosal agenesis" which to the best of our knowledge has never been reported in past from India.

  11. Prenatal diagnosis of bilateral pulmonary agenesis: a case report.

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    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Jieun; Seo, Jeong-Wook

    2010-01-01

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  12. Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

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    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Ji Eun; Seo, Jeong Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2010-02-15

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  13. Hymen Tearing in the Treatment of Vaginal Agenesis: Implications on Women in Turkey.

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    Yaman, Şengül; Ayaz, Sultan

    2014-07-01

    Rupture of the hymen before marriage is a significant problem for a woman and her family. The purpose of this article is to present a case report where hymen membrane perforation was required for vaginal agenesis in a 13-year-old adolescent, identify psychosocial issues related to the torn hymen in the Turkish culture, discuss gender inequality affecting health care of women with a torn hymen, identify the impact of a torn hymen on a Turkish woman's social status, and discuss health care implications for the woman and her family. The girl could not understand the situation and experienced feelings of guilt. The parents displayed an intense reaction of shock and denial after being informed about the disorder and treatment process and felt a sense of hopelessness about the future of their daughter. Nurses are expected to fulfill their training, counseling, and advocacy roles about this issue.

  14. Change of the agenesis rate of palmaris longus muscle in an isolated village in Ukraine.

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    Barkáts, N

    2015-01-01

    The palmaris longus muscle (PLM) is a slender, fusiform muscle which lies on the flexor surface of the forearm. Its agenesis is considered the most frequent anatomic variation in the human body. Agenesis of PLM shows strong racial and ethnic variability. The aim of this study was to examine the prevalence of agenesis of PLM in Dercen, an isolated Hungarian village in Ukraine. Five hundred forty-eight persons were examined by Thompson's, Shaffer's, Pushpakumar's, Mishra's 1, and Mishra's 2 tests to confirm or refute the presence of a PLM. All the examined subjects were of Hungarian ethnic origin. The overall prevalence of absence of the palmaris longus was 52.92%. During the examination, unusual results appeared regarding the agenesis of PLM in the elder population of village. Further tests among elder population shoved that in people born before 1945 the agenesis rate of PLM was higher than 70%, and in villagers born after 1945 the agenesis rate drops by 23%. In the light of historical events of the country, we can say that the unexpected change of the PLM agenesis rate in 1945 was caused by invasion of soviet army and deportation of local men from their homeland.

  15. Sound lateralization in subjects with callosotomy, callosal agenesis, or hemispherectomy.

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    Hausmann, Markus; Corballis, Michael C; Fabri, Mara; Paggi, Aldo; Lewald, Jörg

    2005-10-01

    The question of whether there is a right-hemisphere dominance in the processing of auditory spatial information in human cortex as well as the role of the corpus callosum in spatial hearing functions is still a matter of debate. Here, we approached this issue by investigating two late-callosotomized subjects and one subject with agenesis of the corpus callosum, using a task of sound lateralization with variable interaural time differences. For comparison, three subjects with left or right hemispherectomy were also tested by employing identical methods. Besides a significant reduction in their acuity, subjects with total or partial section of the corpus callosum exhibited a considerable leftward bias of sound lateralization compared to normal controls. No such bias was found in the subject with callosal agenesis, but merely a marginal reduction of general acuity. Also, one subject with complete resection of the left cerebral cortex showed virtually normal performance, whereas another subject with left hemispherectomy and one subject with right hemispherectomy exhibited severe deficits, with almost total loss of sound-lateralization ability. The results obtained in subjects with callosotomy indicate that the integrity of the corpus callosum is not indispensable for preservation of sound-lateralization ability. On the other hand, transcallosal interhemispheric transfer of auditory information obviously plays a significant role in spatial hearing functions that depend on binaural cues. Moreover, these data are compatible with the general view of a dominance of the right cortical hemisphere in auditory space perception.

  16. Predicting Agenesis of the Mandibular Second Premolar from Adjacent Teeth.

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    Geetanjali Sharma

    Full Text Available Early diagnosis of agenesis of the mandibular second premolar (P2 enhances management of the dental arch in the growing child. The aim of this study was to explore the relationship in the development of the mandibular first molar (M1 and first premolar (P1 at early stages of P2 (second premolar. Specifically, we ask if the likelihood of P2 agenesis can be predicted from adjacent developing teeth. We selected archived dental panoramic radiographs with P2 at crown formation stages (N = 212 and calculated the likelihood of P2 at initial mineralisation stage 'Ci' given the tooth stage of adjacent teeth. Our results show that the probability of observing mandibular P2 at initial mineralisation stage 'Ci' decreased as both the adjacent P1 and M1 matured. The modal stage at P2 'Ci' was P1 'Coc' (cusp outline complete and M1 'Crc' (crown complete. Initial mineralisation of P2 was observed up to P1 'Crc' and M1 stage 'R½' (root half. The chance of observing P2 at least 'Coc' (coalescence of cusps was considerably greater prior to these threshold stages compared to later stages of P1 and M1. These findings suggest that P2 is highly unlikely to develop if P1 is beyond 'Crc' and M1 is beyond 'R½'.

  17. The Prevalence of Palmaris longus agenesis among the Ghanaian population

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    Osonuga A

    2012-10-01

    Full Text Available Objective: Background: Studies have documented the agenesis of Palmaris longus muscle in different populations but none has included the Ghanaian population. Methods: The study involved 226 subjects (130 females and 96 males who are students of the University of Cape Coast, Cape Coast, Ghana. The presence of the PLM was clinically determined using the Schaeffer’s test. Subjects in which the tendon was not visualized or palpable, two other tests were performed to confirm the absence. Results: The total prevalence of absence of PLM was 3.1%; absence on the left hand was commoner than on the right hand. The frequency of PLM absence was also slightly higher in females than in males representing 1.8% and 1.3% respectively. One female had the PLM absent bilaterally whiles a male subject had a trifid tendon on the right forearm with a bifid on the left. Conclusion: The prevalence of PLM agenesis in the Ghanaian population is lower compared to values coated in standard textbook on surgery. PLM is not diminishing as fast as observed in some population hence it is can be readily used as donor tendon by Ghanaian surgeons.

  18. Identification of genetic risk factors for maxillary lateral incisor agenesis.

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    Alves-Ferreira, M; Pinho, T; Sousa, A; Sequeiros, J; Lemos, C; Alonso, I

    2014-05-01

    Tooth agenesis affects 20% of the world population, and maxillary lateral incisors agenesis (MLIA) is one of the most frequent subtypes, characterized by the absence of formation of deciduous or permanent lateral incisors. Odontogenesis is a complex mechanism regulated by sequential and reciprocal epithelial-mesenchymal interactions, controlled by activators and inhibitors involved in several pathways. Disturbances in these signaling cascades can lead to abnormalities in odontogenesis, resulting in alterations in the formation of the normal teeth number. Our aim was to study a large number of genes encoding either transcription factors or key components in signaling pathways shown to be involved in tooth odontogenesis. We selected 8 genes-MSX1, PAX9, AXIN2, EDA, SPRY2, TGFA, SPRY4, and WNT10A-and performed one of the largest case-control studies taking into account the number of genes and variants assessed, aiming at the identification of MLIA susceptibility factors. We show the involvement of PAX9, EDA, SPRY2, SPRY4, and WNT10A as risk factors for MLIA. Additionally, we uncovered 3 strong synergistic interactions between MLIA liability and MSX1-TGFA, AXIN2-TGFA, and SPRY2-SPRY4 gene pairs. We report the first evidence of the involvement of sprouty genes in MLIA susceptibility. This large study results in a better understanding of the genetic components and mechanisms underlying this trait.

  19. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.

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    Guion-Almeida, Maria Leine; Richieri-Costa, Antonio; Jehee, Fernanda Sarquis; Passos-Bueno, Maria Rita Santos; Zechi-Ceide, Roseli Maria

    2012-07-01

    We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219 kb. Conventional karyotype of both parents was normal, and it was not possible to perform the molecular studies. In this report we raise the hypothesis that the deleted genes located at 21q22.3 could account to the phenotype.

  20. Unilateral Congenital Lacrimal Fistula with Renal Agenesis and Pelvic Kidney: A Case Report and Review of the Literature

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    A. Altun

    2015-01-01

    Full Text Available A 12-year-old boy presented to the clinic of ophthalmology because of watering and discharge from his left lower eyelid. The inspection examination revealed an orifice that was associated with congenital lacrimal fistula (CLF. He underwent a complete ophthalmologic and systemic evaluation to explore possible associated findings. Systemic evaluation revealed multiple renal anomalies: right renal agenesis and left ectopic pelvic kidney. This case is unique because this is the first reported case of CLF accompanied with ectopic pelvic kidney in the literature.

  1. Unilateral Congenital Lacrimal Fistula with Renal Agenesis and Pelvic Kidney: A Case Report and Review of the Literature.

    Science.gov (United States)

    Altun, A; Kurna, S A; Sengor, T; Altun, G; Oflaz, A; Sonmez, H S

    2015-01-01

    A 12-year-old boy presented to the clinic of ophthalmology because of watering and discharge from his left lower eyelid. The inspection examination revealed an orifice that was associated with congenital lacrimal fistula (CLF). He underwent a complete ophthalmologic and systemic evaluation to explore possible associated findings. Systemic evaluation revealed multiple renal anomalies: right renal agenesis and left ectopic pelvic kidney. This case is unique because this is the first reported case of CLF accompanied with ectopic pelvic kidney in the literature.

  2. MRI findings of type II sacral agenesis: A case report and literature review

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    Lee, Sang A; Kim, Myung Soon; Kwon, Woo Cheol [Dept. of Radiology, Yonsei University Wonju College of Medicine, Wonju Severance Christian Hospital, Wonju (Korea, Republic of)

    2016-07-15

    Sacral agenesis (or caudal regression syndrome) is a rare congenital anomaly involving various levels of coccygeal, sacral, and even lumbar or lower thoracic vertebral dysgenesis, as well as spinal cord abnormalities. A few cases have been previously reported in Korea, especially based upon MRI findings. We describe a case of a 4-year-old girl with partially bilateral agenesis of the sacrum (type II), and club-shaped (chisel-shaped) spinal cord disruption. We also review MRI findings of sacral agenesis, focused on classification and radiological findings.

  3. Cloacal dysgenesis sequence with bilateral renal agenesis and normal pulmonary development in twin pregnancy.

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    Jegadeesh, Sundram; Mahajan, Jai Kumar

    2016-01-20

    Cloacal dysgenesis sequence (CDS) is a rare congenital anomaly. It is characterised by a smooth perineum with absence of anal and genitourinary orifices, with reported incidence of 1:50,000-250,000 births. Association with bilateral renal agenesis is still rarer and resultant severe oligohydramnios is associated with pulmonary hypoplasia. Only a few cases of CDS with bilateral renal agenesis have been reported in the English language literature, with associated pulmonary hypoplasia as a default phenomenon. We report a case of CDS and bilateral renal agenesis without associated pulmonary hypoplasia in a twin pregnancy, which, to the best of our knowledge, is the second reported case of this amalgamation.

  4. Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.

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    Shih-Kai Wang

    Full Text Available Inherited dentin defects are classified into three types of dentinogenesis imperfecta (DGI and two types of dentin dysplasia (DD. The genetic etiology of DD-I is unknown. Defects in dentin sialophosphoprotein (DSPP cause DD type II and DGI types II and III. DGI type I is the oral manifestation of osteogenesis imperfecta (OI, a systemic disease typically caused by defects in COL1A1 or COL1A2. Mutations in MSX1, PAX9, AXIN2, EDA and WNT10A can cause non-syndromic familial tooth agenesis. In this study a simplex pattern of clinical dentinogenesis imperfecta juxtaposed with a dominant pattern of hypodontia (mild tooth agenesis was evaluated, and available family members were recruited. Mutational analyses of the candidate genes for DGI and hypodontia were performed and the results validated. A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile causing hypodontia were identified and correlated with the phenotypic presentations in the family. Bone radiographs of the proband's dominant leg and foot were within normal limits. We conclude that when no DSPP mutation is identified in clinically determined isolated DGI cases, COL1A1 and COL1A2 should be considered as candidate genes. PAX9 mutation p.Phe15Ile within the N-terminal β-hairpin structure of the PAX9 paired domain causes tooth agenesis.

  5. Possible role of WT1 in a human fetus with evolving bronchial atresia, pulmonary malformation and renal agenesis.

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    Loo, Christine K C; Algar, Elizabeth M; Payton, Diane J; Perry-Keene, Joanna; Pereira, Tamara N; Ramm, Grant A

    2012-01-01

    The association of peripheral bronchial atresia and congenital pulmonary airway malformation (CPAM) has recently been recognised, but the pathology of the lesions evolving together has not been described. We present autopsy findings in a 20 week fetus showing areas of peripheral bronchial destruction and airway malformation consistent with developing CPAM in the right lung supporting a causal relationship between these lesions. This fetus also had congenital heart defect, bilateral renal agenesis and syndactyly. We identified another fetus from our autopsy files, with bilateral renal agenesis, similar right sided pulmonary malformation and cardiac defects. Similar bilateral renal agenesis and defects of the heart and lungs are found in wt1(-/-) mice and we have investigated the expression of WT1 in these fetuses. We hypothesise that the cardiac, liver, renal and possibly lung lesions in these two cases may arise due to mesenchymal defects consequent to WT1 misexpression and discuss evidence for this from the scientific literature. We used immunoperoxidase stains to analyse WT1 expression in autopsy hepatic tissue in both fetuses. We also investigated the expression of α-smooth muscle actin (α-SMA), a marker of activated hepatic stellate cells/myofibroblasts, and desmin in hepatic mesenchyme and compare these findings with control fetuses, without congenital malformations. We found reduced WT1 expression in hepatic mesothelium in both fetuses with malformations. There was also increased expression of α-SMA in liver perisinusoidal cells, as seen in the wt1(-/-) mouse model. We therefore propose that abnormality of WT1 signalling may be an underlying factor, as WT1 is expressed in coelomic lining cells from which mesenchyme is derived in many organs.

  6. Bochdalek Hernia with Adult Diaphragmatic Agenesis

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    Erkan Akar

    2013-10-01

    Full Text Available    Diaphragmatic hernia arises from pleuro-peritoneal membranes inability to close pericardioperitoneal membranes. Diaphragmatic defect may be located in esophageal hiatus (hiatal hernia, nearby the hiatus (paraesophageal, retrosternal (Morgagni or posterolateral (Bochdalek. Congenital diaphragmatic hernias (CDH diagnosed after neonatal period are defined as late presenting CDH. This group of patients consist 5-31% of CDHs and lead to diagnostic difficulties. A case of adult type Bochdalek hernia who was admitted to our clinic with respiratory problems and recognized late with the absence of left diaphragm was discussed in the light of clinical and surgical methods.

  7. Unusual form of Mullerian Agenesis Syndrome

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    Mostafa Mohamed Khodry

    2014-12-01

    She is phenotypically female – has well devolped female secondary sexual characteristics – and has normal female external genitalia. There is a shallow vaginal dimple. Absence of the upper vagina and two uterine buds separate from each other demonstrated by MRI and laparoscopy. Ultrasound and intravenous pyelography have documented no renal anomalies. Chromosomal analysis reveals a normal female karyotype (46, XX. Endocrine evaluation shows normal levels of estradiol, follicle-stimulating hormone and luteinizing hormone. Radiographs did not reveal any associated skeletal abnormalities. Aside from this being a rare case of a disorder of sexual development, this is worth reporting because it illustrates the diagnostic work-up of a patient presenting with primary amenorrhea.

  8. Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.

    Science.gov (United States)

    Hilbrands, Robert; Keymolen, Kathelijn; Michotte, Alex; Marichal, Miriam; Cools, Filip; Goossens, Anieta; Veld, Peter In't; De Schepper, Jean; Hattersley, Andrew; Heimberg, Harry

    2017-05-19

    Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development. We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly (HPE), a more common brain developmental disorder. Clinical findings were later confirmed by autopsy, which also identified agenesis of the gallbladder. Although the sequences of a selected set of genes related to pancreas agenesis or HPE were wild-type, the patient's phenotype suggests a genetic defect that emerges early in embryonic development of brain, gallbladder and pancreas. Developmental defects of the pancreas and brain can occur together. Identifying the genetic defect may identify a novel key regulator in beta cell development.

  9. Incidentally detected right pulmonary artery agenesis with right coronary artery collateralization.

    Science.gov (United States)

    Mikaberidze, Nino; Goldberg, Ythan; Khosraviani, Khashayar; Taub, Cynthia

    2014-01-01

    Unilateral pulmonary artery agenesis (UPAA) with pulmonary hypoplasia is a rare congenital anomaly. We describe a 71-year old male who was incidentally diagnosed with the right UPAA and a hypoplastic right lung supplied by collateralized right coronary.

  10. Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report

    National Research Council Canada - National Science Library

    Robert Hilbrands; Kathelijn Keymolen; Alex Michotte; Miriam Marichal; Filip Cools; Anieta Goossens; Peter Int Veld; Jean De Schepper; Andrew Hattersley; Harry Heimberg

    2017-01-01

    Background Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development...

  11. Delayed dental maturity in dentitions with agenesis of mandibular second premolars

    DEFF Research Database (Denmark)

    Daugaard, S; Christensen, I J; Kjaer, I

    2010-01-01

    To evaluate dental maturity in the mandibular canine/premolar and molar innervation fields in children with agenesis of the 2nd mandibular premolar and to associate these findings with normal control material....

  12. Language lateralization in a patient with temporal lobe epilepsy and callosal agenesis.

    Science.gov (United States)

    Alsaadi, Taoufik; Shahrour, Tarek M

    2015-01-01

    The corpus callosum has been proposed as a mechanism of interhemispheric inhibition that allows language dominance to develop [1]. Callosal agenesis or dysgenesis provides a test of this hypothesis, as patients lacking a normal corpus callosum should also lack normal language lateralization [2]. We report pre- and postoperative functional magnetic resonance imaging (fMRI) and neuropsychological testing in a patient with partial callosal agenesis who underwent a right temporal lobectomy for medically refractory seizures.

  13. Language lateralization in a patient with temporal lobe epilepsy and callosal agenesis

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    Taoufik Alsaadi

    2015-01-01

    Full Text Available The corpus callosum has been proposed as a mechanism of interhemispheric inhibition that allows language dominance to develop [1]. Callosal agenesis or dysgenesis provides a test of this hypothesis, as patients lacking a normal corpus callosum should also lack normal language lateralization [2]. We report pre- and postoperative functional magnetic resonance imaging (fMRI and neuropsychological testing in a patient with partial callosal agenesis who underwent a right temporal lobectomy for medically refractory seizures.

  14. Language lateralization in a patient with temporal lobe epilepsy and callosal agenesis

    OpenAIRE

    Taoufik Alsaadi; Shahrour, Tarek M.

    2014-01-01

    The corpus callosum has been proposed as a mechanism of interhemispheric inhibition that allows language dominance to develop [1]. Callosal agenesis or dysgenesis provides a test of this hypothesis, as patients lacking a normal corpus callosum should also lack normal language lateralization [2]. We report pre- and postoperative functional magnetic resonance imaging (fMRI) and neuropsychological testing in a patient with partial callosal agenesis who underwent a right temporal lobectomy for me...

  15. A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation.

    Science.gov (United States)

    Tutak, E; Satar, M; Yapicioğlu, H; Altintaş, A; Narli, N; Hergüner, O; Bayram, Y

    2009-01-01

    Classical neonatal diabetes mellitus is defined as hyperglycemia that occurs within the first month of life in term infants. It can be either permanent or transient. Cerebellar agenesis and permanent neonatal diabetes has been previously reported as a new autosomal recessive disorder. Pancreas Transcription Factor 1 Alpha (PTF1A) mutations have been related with this constellation of abnormalities. Here we report a new case of cerebellar agenesis and neonatal diabetes mellitus whose parents are PTF1A mutation carriers.

  16. Bilateral agenesis of the superior vena cava associated with congenital hydrothorax.

    Science.gov (United States)

    Römer, S; Opgen-Rhein, B; Chaoui, R; Scheer, I; Czernik, C; Obladen, M

    2006-11-01

    Agenesis of the superior vena cava is a rare anomaly that is generally asymptomatic in the neonate. We report a male neonate with bilateral (total) agenesis of the superior vena cava with obstructed thoracic duct and subsequent congenital hydrothorax, anomalies that were detected by prenatal ultrasound at 25 weeks' gestation. The cardiac anomaly was confirmed by postnatal magnetic resonance angiography. The chylothorax disappeared with conservative therapy.

  17. Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder

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    Giannattasio Alessandro

    2009-07-01

    Full Text Available Abstract Recent studies suggested a link between type 1 diabetes mellitus and pervasive developmental disorder. Moreover, permanent neonatal diabetes mellitus due to pancreatic agenesis can be associated with neurological deficit involving cerebellar functions, but no association with pervasive developmental disorder has been described so far. Clinical and neuropsychological evaluation of a child with pancreatic agenesis, mental retardation and pervasive developmental disorder is reported.

  18. Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis

    Science.gov (United States)

    Salvi, Alessandro; Giacopuzzi, Edoardo; Bardellini, Elena; Amadori, Francesca; Ferrari, Lia; De Petro, Giuseppina; Borsani, Giuseppe; Majorana, Alessandra

    2016-01-01

    Dental agenesis is one of the most common congenital craniofacial abnormalities. Dental agenesis can be classified, relative to the number of missing teeth (excluding third molars), as hypodontia (1 to 5 missing teeth), oligodontia (6 or more missing teeth), or anodontia (lack of all teeth). Tooth agenesis may occur either in association with genetic syndromes, based on the presence of other inherited abnormalities, or as a non-syndromic trait, with both familiar and sporadic cases reported. In this study, we enrolled 16 individuals affected by tooth agenesis, prevalently hypodontia, and we carried out direct Sanger sequencing of paired box 9 (PAX9) and Msh homeobox 1 (MSX1) genes in 9 subjects. Since no mutations were identified, we performed whole exome sequencing (WES) in the members of 5 families to identify causative gene mutations either novel or previously described. Three individuals carried a known homozygous disease mutation in the Wnt family member 10A (WNT10A) gene (rs121908120). Interestingly, two of these individuals were siblings and also carried a heterozygous functional variant in EDAR-associated death domain (EDARADD) (rs114632254), another disease causing gene, generating a combination of genetic variants never described until now. The analysis of exome sequencing data in the members of other 3 families highlighted new candidate genes potentially involved in tooth agenesis and considered suitable for future studies. Overall, our study confirmed the major role played by WNT10A in tooth agenesis and the genetic heterogeneity of this disease. Moreover, as more genes are shown to be involved in tooth agenesis, WES analysis may be an effective approach to search for genetic variants in familiar or sporadic tooth agenesis, at least in more severe clinical manifestations. PMID:27665865

  19. Agenesis of premolar associated with submerged primary molar and a supernumerary premolar: An unusual case report

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    S. V. S. G. Nirmala

    2012-01-01

    Full Text Available The combination of submerged primary molar, agenesis of permanent successor with a supernumerary in the same place is very rare. The purpose of this article is to report a case of submerged mandibular left second primary molar with supernumerary tooth in the same region along with agenesis of second premolar in an 11-year-old girl, its possible etiological factors, and a brief discussion on treatment options.

  20. Emotional Intelligence in Agenesis of the Corpus Callosum.

    Science.gov (United States)

    Anderson, Luke B; Paul, Lynn K; Brown, Warren S

    2017-01-23

    People with agenesis of the corpus callosum (AgCC) with normal general intelligence have deficits in complex cognitive processing, as well as in social cognition. It is uncertain the extent to which impoverished processing of emotions may contribute to social processing deficiencies. We used the Mayer-Salovey-Caruso Emotional Intelligence Test to clarify the nature of emotional intelligence in 16 adults with AgCC. As hypothesized, persons with AgCC exhibited greater disparities from norms on tests involving more socially complex aspects of emotions. The AgCC group did not differ from norms on the Experiential subscale, but they were significantly below norms on the Strategic subscale. These findings suggest that the corpus callosum is not essential for experiencing and thinking about basic emotions in a "normal" way, but is necessary for more complex processes involving emotions in the context of social interactions.

  1. Conservative Management of a Congenital Seminal Vesicle Cyst Associated with Ipsilateral Renal Agenesis Revealed by Cystitis: One Case Report

    Directory of Open Access Journals (Sweden)

    Youness Ahallal

    2011-01-01

    Full Text Available Seminal vesicle cyst is an extremely rare disease. Its association with ipsilateral renal agenesis is even more exceptional. We present herein one case of a 16-year-old male who presented with a four-month history of lower urinary tract symptoms (LUTSs and micturition pain. The digital rectal examination revealed a small mass arising from the prostate. The urine culture showed that E. coli is sensitive to all antibiotics tested. Transrectal ultrasound (TRUS revealed a cystic mass in the outer prostate. Seminal vesicle cyst and left renal agenesis were confirmed by magnetic resonance imaging (MRI. Maximum flow (Qmax at uroflow was greater than 15 mL/sec. We therefore decided to manage this disease conservatively with alpha blockers and antibiotics. After 6-month' followup the patient did not report any complain and the uroflow test was similar to a normal urination. From one case report and literature review, the authors suggest a diagnostic and therapeutic strategy for the management of this rare condition.

  2. Agenesis of the Dorsal Pancreas with Chronic Calcific Pancreatitis. Case Report, Review of the Literature and Genetic Basis

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    Vallath Balakrishnan

    2006-11-01

    Full Text Available Context Agenesis of the dorsal pancreas is a rare developmental anomaly. This anomaly may be complicated by recurrent acute and chronic pancreatitis.Case report We report the case of a 28-year-old female with agenesis of the dorsal pancreas and chronic calcific pancreatitis. The diagnosis of agenesis of the dorsal pancreas is discussed and the genetic changes leading to it are reviewed. The possibility of the patient having tropical pancreatitis is mentioned.Conclusions This is probably the first report of chronic calcific pancreatitis complicating agenesis of the dorsal pancreas

  3. Connectivity and the corpus callosum in autism spectrum conditions: insights from comparison of autism and callosal agenesis.

    Science.gov (United States)

    Booth, Rhonda; Wallace, Gregory L; Happé, Francesca

    2011-01-01

    Neural models of autism spectrum disorders (ASDs) have moved, in recent years, from a lesion model to a focus on abnormal connectivity. In this chapter, we review this work and summarize findings from our recent research comparing autism and agenesis of the corpus callosum (AgCC). We discuss our findings in the context of the "fractionable triad" account and highlight three main points. First, the social aspects of autism can be found in isolation, not accompanied by the nonsocial features of this disorder, supporting a view of autism as a "compound," rather than "monolithic," condition. Second, many young people with callosal agenesis show theory of mind- and emotion-processing deficits akin to those seen in autism. Diagnostic overshadowing may mean these people do not receive interventions that have proven beneficial in ASD. Last, study of AgCC shows that it is possible, in some cases, to develop good social cognitive skills in the absence of the corpus callosum, presenting a challenge to future connectivity models of autism.

  4. Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia

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    Muhammad SAEED*

    2014-12-01

    Full Text Available How to Cite This Article: Saeed M, Haq A, Qadir Kh.Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia. Iran J Child Neurol. 2014 Autumn;8(4: 76-79.AbstractObjectiveBart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart’s syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized by raw beefy areas of denuded skin mainly on hands and feet.We report a rare case of a term female newborn born to non-consanguineous parents who presented with congenital absence of skin in, face, trunk and extremities. To the best of our knowledge, this is the first report presenting a case of Bart’s syndrome associated with corpus callosum agenesis.ReferencesBart BJ, Garlin RJ, Anderson VE, Lynch FW. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol 1966; 93: 296-304.Bart BJ. Epidermolysis bullosa and congenital localized absence of skin. Arch Dermatol 1970; 101: 78-81.Skoven I, Drzewiecki KT. Congenital localized skin defect and epidermolysis bullosa hereditaria letalis. Acta Derm Venereol 1979; 59: 533-537.Wojnarowska FT, Eady RA, Wells RS. Dystrophic epidermolysis bullosa presenting with congenital localized absence of skin: report of four cases. Br J Dermatol 1983; 108: 477-483.Kanzler MH, Smoller B, Woodley DT. Congenital localized absence of the skin as a manifestation of epidermolysis bullosa. Arch Dermatol 1992; 128:1087-90.Maman E, Maor E, Kachko L, Carmi R. Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. Am J Med Genet 1998; 78: 127-133.McCarthy MA, Clarke T, Powell FC. Epidermolysis bullosa and aplasia cutis. Int J Derm 1991; 30: 481-484.Puvabanditsin S, Garrow E, Daeun K

  5. Incidence of agenesis of palmaris longus in the Andhra population of India

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    K Devi Sankar

    2011-01-01

    Full Text Available Background : The knowledge of Palmaris longus (PL is a growing interest for its wide role in reconstructive plastic surgeries as a donor tendon for transfer or transplant. The prevalence of the PL agenesis has been well-documented by many authors in different ethnic groups or populations. Many conventional tests for determining the presence of the PL has been described, but lamentably there are many discrepancies in confirming its presence or absence. Slight modifications of the prevailing methods can still give authenticate results. Aim : This prospective study was conducted to determine the incidence of unilateral and bilateral agenesis of PL and its association with sex and side of the limb in the Andhra population of India. Materials and Methods : A total of 942 subjects of both sexes belonging to 18-23 years were used to access the PL using various tendon examination techniques including our modified Schaeffer′s test. The data collected were analyzed by Pearsons χ2 test using SPSS software. Results : Overall agenesis of muscle in both sexes was 264 (28.0%, out of which 40.2% was seen in females and 14.7% in males with the ratio of 3:1. The unilateral agenesis was seen in 70.5% and bilateral agenesis in 29.5% subjects. The left side agenesis was seen in 51.6% and right side in 48.4% subjects. Conclusions : The prevalence of bilateral and unilateral agenesis was more common on left side with a greater likelihood in the female subjects. The proposed technique could bring better results in all subjects and can be implemented in manual examination of PL.

  6. Incidence of agenesis of palmaris longus in the Andhra population of India

    Science.gov (United States)

    Sankar, K. Devi; Bhanu, P. Sharmila; John, Susan P.

    2011-01-01

    Background: The knowledge of Palmaris longus (PL) is a growing interest for its wide role in reconstructive plastic surgeries as a donor tendon for transfer or transplant. The prevalence of the PL agenesis has been well-documented by many authors in different ethnic groups or populations. Many conventional tests for determining the presence of the PL has been described, but lamentably there are many discrepancies in confirming its presence or absence. Slight modifications of the prevailing methods can still give authenticate results. Aim: This prospective study was conducted to determine the incidence of unilateral and bilateral agenesis of PL and its association with sex and side of the limb in the Andhra population of India. Materials and Methods: A total of 942 subjects of both sexes belonging to 18-23 years were used to access the PL using various tendon examination techniques including our modified Schaeffer's test. The data collected were analyzed by Pearsons χ2 test using SPSS software. Results: Overall agenesis of muscle in both sexes was 264 (28.0%), out of which 40.2% was seen in females and 14.7% in males with the ratio of 3:1. The unilateral agenesis was seen in 70.5% and bilateral agenesis in 29.5% subjects. The left side agenesis was seen in 51.6% and right side in 48.4% subjects. Conclusions: The prevalence of bilateral and unilateral agenesis was more common on left side with a greater likelihood in the female subjects. The proposed technique could bring better results in all subjects and can be implemented in manual examination of PL. PMID:21713200

  7. Isolated Hypoplasia of Left Pulmonary Artery with Agenesis of Left Lobe of Thyroid: A Case Report.

    Science.gov (United States)

    Khadir, Mohammed Abdul; Narayana, Ganesh; Ramagopal, Ganavi; Nayar, Pradeep G

    2016-12-01

    Isolated Unilateral hypoplasia or agenesis of a branch of pulmonary artery is very rare. It is usually seen associated with congenital heart diseases such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia. It occurs as a result of lack of embryological development of either the left or right sixth aortic arch and has been found to present itself with various clinical manifestations as during childhood it presents as contralateral pulmonary hypertension and in adults as haemoptysis. Early diagnosis and early surgical indication avoids the evolution of pulmonary hypertension to unfavourble state of more severe and progressive degrees and also prevents the development of pulmonary systemic collateral circulation, which is mainly responsible for subsequent haemoptysis in the adulthood. We hereby, report the case of an infant who presented with features of lower respiratory tract infection and later diagnosed as isolated congenital hypoplasia of left pulmonary artery and hence planned for proper follow-up for early surgery thereby preventing complications in the future.

  8. Prevalence of tooth agenesis in adolescent Chinese populations with or without orthodontics.

    Science.gov (United States)

    Zhang, Jin; Liu, Hao Chen; Lyu, Xiang; Shen, Gua Hua; Deng, Xu Xia; Li, Wei Ran; Zhang, Xiao Xia; Feng, Hai Lan

    2015-01-01

    To determine the prevalence of hypodontia in the general population and orthodontic population in adolescent Chinese Hans. Two groups named the general population (6015 subjects) and the orthodontic population (2781 subjects) were investigated, respectively. The former came from the students of three general universities in North China and the latter came from patients coming to the Department of Orthodontics, Peking University School and Hospital of Stomatology for orthodontic consulting during the summer and winter holidays in 2008. The prevalence and average missing number of hypodontic teeth was investigated in the two groups. The distribution of missing teeth was analysed between jaw positions and between genders. The prevalence of tooth agenesis was found to be 5.89% for the general population group and 7.48% for orthodontic subjects. Tooth agenesis was more frequently found in females than in males in both of the two groups and showed a statistically significant difference (P orthodontic population. The prevalence and the number of missing teeth were higher in the orthodontic population than in the general population. Tooth agenesis showed different characteristics in the two populations. The congenital absence of the second mandibular premolars and the maxillary lateral incisors increased in the orthodontic population. Gender difference in hypodontia expressed an opposite effect in the two groups. Although tooth agenesis was more frequently found in females than in males, males missed more teeth than females in the orthodontic population. Tooth agenesis showed different characteristics between the general and orthodontic adolescent Chinese populations.

  9. The WNT10A gene in Ectodermal Dysplasias and Selective Tooth Agenesis

    Science.gov (United States)

    Mues, Gabriele; Bonds, John; Xiang, Lilin; Vieira, Alexandre R.; Seymen, Figen; Klein, Ophir; D’Souza, Rena N.

    2014-01-01

    Mutations in the WNT10A gene were first detected in the rare syndrome odonto-onycho-dermal dysplasia (OODD, OMIM257980) but have now also been found to cause about 35-50% of selective tooth agenesis (STHAG4, OMIM150400), a common disorder that mostly affects the permanent dentition. In our random sample of tooth agenesis patients, 40 percent had at least one mutation in the WNT10A gene. The WNT10A Phe228Ile variant alone reached an allele frequency of 0.21 in the tooth agenesis cohort, about 10 times higher than the allele frequency reported in large SNP data bases for Caucasian populations. Patients with bi-allelic WNT10A mutations have severe tooth agenesis while heterozygous individuals are either unaffected or have a mild phenotype. Mutations in the coding areas of the WNT10B gene which is co-expressed with WNT10A during odontogenesis, and the WNT6 gene which is located at the same chromosomal locus as WNT10A in humans, do not contribute to the tooth agenesis phenotype. PMID:24700731

  10. The role of the uncinate process in sinusitis aetiology: isolated agenesis versus maxillary sinus hypoplasia.

    Science.gov (United States)

    Uluyol, S; Arslan, İ B; Demir, A; Mercan, G C; Dogan, O; Çukurova, İ

    2015-05-01

    This study aimed to evaluate the clinical significance of maxillary sinus hypoplasia and isolated agenesis of the uncinate process in sinusitis aetiology. Three patients with isolated agenesis of the uncinate process and 27 patients with 43 maxillary sinus hypoplasia variations were recruited. The frequencies of sinusitis episodes and radiological findings were compared between patient subgroups. In all, 23 type I maxillary sinus hypoplasia, 13 type II maxillary sinus hypoplasia and 7 type III maxillary sinus hypoplasia variations were detected. Patients with isolated agenesis of the uncinate process underwent antibiotic treatment an average of 7 times per year, whereas those with types I, II and III maxillary sinus hypoplasia were treated 1.57, 3.22, and 5.75 times per year, respectively, over a 5-year period. The antibiotic treatment frequency for patients with isolated agenesis of the uncinate process was significantly higher than for those with types I and II maxillary sinus hypoplasia. Isolated agenesis of the uncinate process seems to play a stronger role than types I and II maxillary sinus hypoplasia in the pathophysiology of chronic sinusitis.

  11. Systematic review of sexual function and satisfaction following the management of vaginal agenesis.

    Science.gov (United States)

    McQuillan, Sarah K; Grover, Sonia R

    2014-10-01

    Historically, sexual satisfaction following the management of vaginal agenesis was assessed subjectively. Standardized sexual function questionnaires are being used more frequently as instruments to accurately and more objectively assess the subjective nature of sexual outcomes as part of a more holistic approach to the care of women with vaginal agenesis. Articles concerning the management of vaginal agenesis were systematically reviewed, with specific focus on those that discussed functional outcomes, sexual satisfaction and psychosomatic outcomes, and in particular attempted to measure these outcomes. A total of 6,691 articles on vaginal agenesis were identified, with 106 of these reporting sexual satisfaction and psychosomatic outcomes. Only 1 randomized control trial (RCT) was identified, the remaining articles being made up of case series or case reports. Only 17 articles used standardized objective assessment of sexual satisfaction. While the bowel technique had the longest vaginal length at 12.87 cm, it had the most number of complaints of dyspareunia (4.8%), stenosis (10.5%) and the lowest average subjective sexual satisfaction. The Davydov method used standardized sexual function assessments most frequently. This technique had a higher average score than both the bowel vaginoplasty technique in the only RCT and the Vecchietti method in a prospective assessment. Overall, the management of vaginal agenesis requires a multidisciplinary approach to fully support these patients from initial diagnosis, through management decision-making and long-term follow-up, through transition to adulthood.

  12. Tracheal Agenesis: A Challenging Prenatal Diagnosis—Contribution of Fetal MRI

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    Charline Bertholdt

    2015-01-01

    Full Text Available Tracheal agenesis is a rare congenital anomaly. The prevalence is less than 1 : 50 000 with a male to female ratio of 2 : 1. This anomaly may be isolated but, in 93% of cases, it is part of polymalformative syndrome. The most evocative diagnosis situation is the ultrasonographic congenital high airway obstruction syndrome. Dilated airways, enlarged lungs with flattened diaphragm, fetal ascites and severe nonimmune hydrops can be observed. In the absence of a congenital high airway obstruction syndrome, the antenatal diagnosis of tracheal agenesis is difficult. Tracheal agenesis should be suspected in the presence of an unexplained polyhydramnios associated with congenital malformations. The fetal airway exploration should then be systematically performed by fetal thoracic magnetic resonance imaging. A case of Floyd’s type II tracheal agenesis, detected during the postnatal period, is reported here. The retrospective reexamination of fetal magnetic resonance images showed that the antenatal diagnosis would have been easy if a systematical examination of upper airways had been performed. Prenatal diagnosis of tracheal agenesis is possible with fetal MRI but the really challenge is to think about this pathology.

  13. Discordant tooth agenesis and peg-shaped in a pair of monozygotic twins: Clinical and molecular study

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    Lívia Azeredo Alves Antunes

    2013-01-01

    Full Text Available The present report aimed to study an uncommon case of a pair of twins that presented a discordant dental phenotype. Family investigation, clinical, radiographic examination and molecular analysis were performed in both girls. Molecular analysis confirmed the monozygosity by deoxyribonucleic acid chip technology. One twin presented tooth agenesis in left upper lateral incisor and peg-shaped on the contra lateral side while the other twin had no dental alterations. The dental casts study employed digital caliper to compare morphological dimensions and showed alteration only in peg-shaped tooth. In conclusion, this study provide support that one or more mutated gene could cause discordances in dental phenotype in these monozygotic twins.

  14. Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45,X/46,XY mosaicism.

    Science.gov (United States)

    Wax, J R; Prabhakar, G; Giraldez, R A; Hutchins, G M; Stetten, G; Blakemore, K J

    1994-05-01

    The association of urinary anomalies with Turner's syndrome is well established. This report describes an unusual antenatal presentation of this cytogenetic disorder and the first reported case of unilateral renal hypoplasia and contralateral renal agenesis in a 45,X/46,XY fetus. The fetus presented with severe third trimester oligohydramnios and symmetrical intrauterine growth retardation at 29 weeks and 2 days' gestation. Chorionic villus cultures revealed a 45,X karyotype. A phenotypically male infant weighing 1833 g was delivered at 35 weeks and 2 days. Chromosomal analysis of the newborn showed a 45,X/46,XY mosaicism, and surgical exploration revealed absence of the left kidney and a hypoplastic right kidney. The infant died at 11 months of age from renal failure and peritonitis. This case demonstrates that monosomy X may be encountered in fetuses with marked growth delay and oligohydramnios. The etiology of the oligohydramnios in this case was a fetal renal malformation not previously described in Turner's syndrome. Antenatal cytogenetic findings should be confirmed postnatally, with a search for mosaicism, when monosomy X is encountered.

  15. Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?

    Science.gov (United States)

    Prats Viñas, Jose Maria; Martinez Gonzalez, María Jesús; Garcia Ribes, Ainhoa; Martinez Gonzalez, Sonia; Martinez Fernandez, Ricardo

    2005-06-01

    Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of Aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of Aicardi syndrome in a female aged 24 months. Magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.

  16. Agenesis of the dorsal pancreas and its association with pancreatic tumors.

    Science.gov (United States)

    Sakpal, Sujit Vijay; Sexcius, Lucretia; Babel, Nitin; Chamberlain, Ronald Scott

    2009-05-01

    Morphogenesis of the pancreas is a complex process; nevertheless, congenital anomalies are rare. At embryogenesis, the pancreas develops from the endoderm-lined dorsal and ventral buds of the duodenum. The ventral bud gives rise to the lower head and uncinate process of the pancreas; whereas, the dorsal bud gives rise to the upper head, isthmus, body, and tail of the pancreas. Rarely, developmental failure of the dorsal pancreatic bud at embryogenesis results in the agenesis of the dorsal pancreas--neck, body, and tail. Even rarer is the association of pancreatic tumors with agenesis of the dorsal pancreas. In addition to citing our case, we provide a comprehensive review on agenesis of the dorsal pancreas and its association with pancreatic tumors.

  17. Surgical Treatment of a Rare Isolated Bilateral Agenesis of Anterior and Posterior Cruciate Ligaments

    Directory of Open Access Journals (Sweden)

    G. Cerulli

    2014-01-01

    Full Text Available The isolated bilateral agenesis of both cruciate ligaments is a rare congenital disorder. A 17-year-old male came to our attention due to an alteration in gait pattern, pain, and tendency to walk on the forefoot with his knee flexed. The patient did not recall previous injuries. Upon physical examination anterior and posterior chronic instability were observed. Radiographic examination of both knees showed hypoplasia of the tibial eminence, a hypoplastic lateral femoral condyle, and a narrow intercondylar notch. MRI brought to light a bilateral agenesis of both posterior cruciate ligaments. Arthroscopic evaluation confirmed bilateral isolated agenesis of both cruciate ligaments. We recommended a rehabilitation program to prepare the patient for the arthroscopic construction of both cruciate ligaments.

  18. Surgical treatment of a rare isolated bilateral agenesis of anterior and posterior cruciate ligaments.

    Science.gov (United States)

    Cerulli, G; Amanti, A; Placella, G

    2014-01-01

    The isolated bilateral agenesis of both cruciate ligaments is a rare congenital disorder. A 17-year-old male came to our attention due to an alteration in gait pattern, pain, and tendency to walk on the forefoot with his knee flexed. The patient did not recall previous injuries. Upon physical examination anterior and posterior chronic instability were observed. Radiographic examination of both knees showed hypoplasia of the tibial eminence, a hypoplastic lateral femoral condyle, and a narrow intercondylar notch. MRI brought to light a bilateral agenesis of both posterior cruciate ligaments. Arthroscopic evaluation confirmed bilateral isolated agenesis of both cruciate ligaments. We recommended a rehabilitation program to prepare the patient for the arthroscopic construction of both cruciate ligaments.

  19. Professional and patient-based evaluation of oral rehabilitation in patients with tooth agenesis

    DEFF Research Database (Denmark)

    Dueled, Erik; Gotfredsen, Klaus; Trab Damsgaard, Mogens

    2009-01-01

    variables were acceptable in 92% of the implant reconstructions and for 83% of the tooth-supported fixed dental prostheses (FDPs). The total OHIP score was inferior in rehabilitated patients with tooth agenesis to that of the control group without tooth agenesis. The total OHIP score after rehabilitation......: The study included 129 patients with tooth agenesis rehabilitated with implant- or tooth-supported reconstructions, and a control group of 58 patients. Professional assessments included biological, technical and aesthetic variables. An aesthetic index score included mucosal discoloration, crown morphology......% of the patients in whom orthodontic treatment had been performed. Twelve percent of patients had implants with 5-7 mm peri-implant bone defects. Mucosal discoloration was recorded in 57% of the patients. Twelve percent of the patients had metal visible on the buccal side. The median scores for all five aesthetic...

  20. A spectrum of skeletal anomalies associated with pulmonary agenesis: Possible neural crest injuries

    Energy Technology Data Exchange (ETDEWEB)

    Osborne, J.; Masel, J.; McCredie, J.

    1989-07-01

    Six cases of unilateral pulmonary agenesis with skeletal and other deformities have been diagnosed in our hospitals. The various pulmonary, spinal, rib and limb anomalies with their possible interrelationships were examined and described in detail and comparison with previously reported cases was made. It became apparent that the limb abnormalities which most constantly involved hypoplasia of the phalanges of a thumb with varying metacarpal and radial anomalies, were ipsilateral to the pulmonary agenesis in all cases. The spinal deformities involved degrees of failure of segementation of T1-T3 with other vertebrae randomly involved. Rib abnormalities also varied and did not necessarily correspond to the same side as the pulmonary agenesis. The concept of the anomalies all being part of a group of neural crest injuries was then explored. (orig.).

  1. Agenesis of the corpus callosum in a newborn with Turner mosaicism

    Directory of Open Access Journals (Sweden)

    Ester Pereira

    2014-05-01

    Full Text Available The agenesis of the corpus callosum results from a failure in the development of the largest fiber bundle that connects cerebral hemispheres. Patient’s outcome is influenced by etiology and associated central nervous system malformations. We describe a child with Turner syndrome (TS mosaicism, with particular phenotype features and a complete agenesis of the corpus callosum. To our knowledge, this is the second case report of TS mosaicism associated with complete agenesis of the corpus callosum. Anatomical brain magnetic resonance imaging and diffusion tensor imaging were useful to confirm the complete absence of the corpus callosum, evaluate associated central nervous system malformations, visualize abnormal white matter tracts (Probst bundles and assess the remaining commissures.

  2. A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism

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    Michiko Miki

    2016-05-01

    Full Text Available Purpose: To report a case of ocular albinism found in a newborn infant in whom agenesis of the corpus callosum (ACC was indicated in utero. Case Report: This study involved a female newborn who was delivered after a gestational period of 41 weeks. The patient was referred to the Obstetrics Department at Takatsuki Hospital, Takatsuki City, Japan, after the indication of ACC by magnetic resonance imaging (MRI at a nearby clinic during the fetal period. At birth, the baby’s weight was 2,590 g, and ACC and ventricular enlargement were found by cranial sonography and cranial MRI. While initial ophthalmic findings noted partial loss of pigmentation of the iris and hypopigmentation of broad areas of the fundus in both eyes, nystagmus was not observed. The patient’s hair pigment was slightly diluted, and the color of her skin was slightly off-white. At 2 years after birth, obvious mental retardation was observed. With regard to other systemic findings, no apparent heart, kidney, or immune system abnormalities were found. Conclusion: Although the patient in question is presently growing without any major systemic problems, it will be necessary in the future to pay attention to any changes in systemic and ophthalmic findings.

  3. Agenesis of Permanent Mandibular Central Incisors: A Concordant Condition in Siblings

    Science.gov (United States)

    Namineni, Srinivas; Tupalli, Abhinaya Reddy; Challa, Santhosh Kumar

    2016-01-01

    ABSTRACT Concordance is an identical expression of phenotype in two related individuals. Concordance expression of hypodontia is an uncommon condition where associated individuals are affected with exactly similar kind and number of missing teeth. There is very limited documentation of this condition either in twins or in siblings, and literature shows paucity of data with regard to this anomaly. To the best of our knowledge, there is only one such case reported in the literature, which has actually showed similar missing lower central incisors in siblings. This report presents a case of two girl siblings aged 11 and 13 years with congenital bilateral missing of permanent mandibular central incisors, which is an absolute concordant condition. Apart from discussing etiology, clinical implications and management, this article highlights the significance of concordant and discordant condition of hypodontia and expression of this condition in twins and siblings. How to cite this article: Kagitha PK, Namineni S, Tupalli AR, Challa SK. Agenesis of Permanent Mandibular Central Incisors: A Concordant Condition in Siblings. Int J Clin Pediatr Dent 2016;9(1):74-77. PMID:27274160

  4. Securing the airway in a child with tracheal agenesis – an alternative perspective

    Directory of Open Access Journals (Sweden)

    Slavomir Nosal

    2011-03-01

    Full Text Available Tracheal agenesis is an extremely rare, typically fatal congenital anomaly characterised by typical clinical manifestation, failed endotracheal intubation and difficult emergency management. The prognosis and possibility of surgical correction rest on early diagnosis, anatomy, birth weight, and associated anomalies. Tracheal agenesis causes considerable resuscitation difficulties immediately after birth, as tracheal intubation is impossible. Although emergency management, by either bag and mask ventilation or oesophageal intubation, provides some pulmonary gas exchange through tracheo-oesophageal connection, they are associated with overdistension of the stomach and the risk of stomach perforation. We have performed selective intubation of the distal trachea in a child with tracheal agenesis through the tracheo-oesophageal connection with the help of a fibroendoscope. A standard guide wire was passed through the working port of the flexible endoscope and under direct vision was directed through the tracheo-oesophageal connection into the distal trachea. At this point, the endoscope was removed, leaving the guide wire in place. The endotracheal tube size 2 Fr was passed over the guide wire into the distal trachea. The infant showed dramatic improvement and maintained good saturations on mechanical ventilation. The infant was taken for a computed tomography (CT scan, which showed Floyd’s type II tracheal agenesis, the oesophagus connecting with the distal trachea before it bifurcates. The endotracheal tube was seen ending in the carina. Transoesophageal intubation of the short distal segment of the trachea through the tracheo-oesophageal connection might offer a new perspective for short-term securing of the airway in a child with tracheal agenesis and should be considered in any child with suspected tracheal agenesis to buy the time while evaluating the exact anatomy of the anomaly and the possibility of tracheal reconstruction in selected

  5. Radiographic study of delayed tooth development in patients with dental agenesis.

    Science.gov (United States)

    Ruiz-Mealin, Erika V; Parekh, Susan; Jones, Steven P; Moles, David R; Gill, Daljit S

    2012-03-01

    The aims of this study were to compare the radiographic development of permanent teeth in a group of children affected by dental agenesis with an unaffected control group and to determine the effects of confounding factors including the severity of the dental agenesis, age, sex, ethnicity, and the number of stages used to estimate dental age. A single-center retrospective cross-sectional study of dental panoramic tomographs was undertaken between July 2007 and April 2008 in a postgraduate teaching school. A total of 139 patients (aged 9-18 years) were recruited from the orthodontic clinic on the basis of predetermined inclusion and exclusion criteria to either a dental agenesis group or a control group. Dental panoramic tomograms were assessed, and the stages of development of the permanent teeth in the left maxillary and left mandibular regions were scored by using the 12 stages of Haavikko and the 8 stages of Demirjian and Goldstein. For each tooth scored, the mean dental age and standard error were determined by using the dental age assessment method, and an estimated dental age for each subject was derived by using the weighted average method. A statistically significant delay in dental age was found in the patients with dental agenesis compared with the control group. The dental age assessment method of Haavikko showed a delay of 1.20 years (SD, 1.74), and the method of Demirjian and Goldstein showed a delay of 1.64 years (SD, 1.75). It was also observed that older patients with dental agenesis had greater delays in tooth formation (P tooth, the dental age was delayed by 0.13 year (lower confidence interval, -0.22; upper confidence interval, 0.35). There was no evidence that sex or ethnicity has an effect on the delay in dental age in patients with dental agenesis. The development of permanent teeth in children with dental agenesis is delayed when compared with a matched control group. The severity of dental agenesis affected the magnitude of the delay (P <0

  6. Right pulmonary agenesis in an elderly woman complicated by transient ischemic attack.

    Science.gov (United States)

    Ueda, Takashi; Nozoe, Masahiko; Nakamoto, Yasuhisa; Irie, Yoshikazu; Mizushige, Katsufumi

    2011-01-01

    There are few case reports regarding patients with right lung agenesis living to old age because of both severe mediastinal and cardiac displacements. We report a 61-year-old woman with right pulmonary agenesis complicated by a transient ischemic attack that was evaluated by a three-dimensional reconstruction of helical computed tomography and an echocardiography. This patient was able to survive until old age because she had no critical anomalies in other organs including the heart. A mitral valve prolapse was detected by a two-dimensional echocardiography and we treated her with anti-platelet aggregation therapy for the prevention of recurrent stroke.

  7. Incidentally discovered colpocephaly and corpus callosum agenesis in asymptomatic adult patient

    Directory of Open Access Journals (Sweden)

    Huseyin Buyukgol

    2016-09-01

    Full Text Available The corpus callosum is the biggest commissural structure located in two brain hemispheres and it ensures the connection between cortical and subcortical neurons. The agenesis of the corpus callosum is generally diagnosed in the prenatal period or childhood. It is observed along with congenital abnormalities such as mental and motor retardation, seizures, myelomeningocele. In this article, we reported a case of colpocephaly and corpus callosum agenesis with no symptoms that diagnosed incidentally. [Cukurova Med J 2016; 41(3.000: 564-566

  8. Proverb comprehension in individuals with agenesis of the corpus callosum.

    Science.gov (United States)

    Rehmel, Jamie L; Brown, Warren S; Paul, Lynn K

    2016-09-01

    Comprehension of non-literal language involves multiple neural systems likely involving callosal connections. We describe proverb comprehension impairments in individuals with isolated agenesis of the corpus callosum (AgCC) and normal-range general intelligence. Experiment 1 compared Gorham Proverb Test (Gorham, 1956) performance in 19 adults with AgCC and 33 neurotypical control participants of similar age, sex, and intelligence. Experiment 2 used the Proverbs subtest of the Delis-Kaplan Executive Function System (D-KEFS, 2001) to compare 19 adults with AgCC and 17 control participants with similar age, sex, and intelligence. Gorham Proverbs performance was impaired in the AgCC group for both the free-response and multiple-choice tasks. On the D-KEFS proverbs test, the AgCC group performed significantly worse on the free-response task (and all derivative scores) despite normal levels of performance on the multiple-choice task. Covarying verbal intelligence did not alter these outcomes. However, covarying a measure of non-literal language comprehension considerably reduced group differences in proverb comprehension on the Gorham test, but had little effect on the D-KEFS group differences. The difference between groups seemed to be greatest when participants had to generate their own interpretation (free response), or in the multiple choice format when the test included many proverbs that were likely to be less familiar. Taken together, the results of this study clearly show that proverb comprehension is diminished in individuals with AgCC compared to their peers.

  9. Comprehension of humor in primary agenesis of the corpus callosum.

    Science.gov (United States)

    Brown, Warren S; Paul, Lynn K; Symington, Melissa; Dietrich, Rosalind

    2005-01-01

    Individuals with agenesis of the corpus callosum (ACC) can, in some cases, perform normally on standardized intelligence tests. Nevertheless, recent studies suggest that individuals with ACC and normal IQ scores have deficits in domains of fluid and social intelligence. Anecdotal reports from families suggest diminished appreciation of the subtleties of social interactions, and deficits in the comprehension of jokes and stories. In this research, both the cartoon and narrative joke subtests of a humor test (developed by Brownell et al. [Brownell, H., Michel, D., Powelson, J., & Gardner, H. (1983). Surprise but not coherence: sensitivity to verbal humor in right-hemisphere patients. Brain and language, 18(1), 20-27] and Bihrle et al. [Bihrle, A. M., Brownell, H. H., Powelson, J. A., & Gardner, H. (1986). Comprehension of humorous and non-humorous materials by left and right brain-damaged patients. Brain and Cognition, 5(4), 399-411]) were given to 16 adults with complete ACC (all with IQs>80) and 31 controls of similar age and IQ. Individuals with ACC performed worse than controls on the narrative joke subtest (p<.025) when VIQ was controlled. However, on the cartoon subtest the two groups were not significantly different. Covarying age, forms of IQ, narrative memory, set-switching, and literal language comprehension did not substantially alter the group difference. However, covarying comprehension of nonliteral language and proverbs eliminated the difference, suggesting a common origin for the comprehension of jokes, nonliteral language, and proverbs, most likely related to capacity for understanding second-order meanings.

  10. Horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of upper lobe bronchi.

    Science.gov (United States)

    Oguz, Berna; Alan, Serdar; Ozcelik, Ugur; Haliloglu, Mithat

    2009-09-01

    Horseshoe lung, a rare congenital anomaly, is almost always associated with unilateral (usually right-sided) lung hypoplasia, and, in most cases, in conjunction with the scimitar syndrome. We present an 8-month-old boy with horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of the upper lobe bronchi, diagnosed by multidetector CT (MDCT) imaging. The study also revealed an anomalous origin of the left vertebral artery as the last branch of the aortic arch, distal to the left subclavian artery, and an anomalous origin of the left common carotid artery from the brachiocephalic trunk. A hemivertebral anomaly of the seventh cervical vertebra was incidentally detected. MDCT with high-quality multiplanar and three-dimensional reconstructions is a noninvasive and rapid technique for detecting the complex combination of vascular, tracheobronchial and parenchymal anomalies, and any potential bone anomalies, in one imaging study.

  11. Horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of upper lobe bronchi

    Energy Technology Data Exchange (ETDEWEB)

    Oguz, Berna; Haliloglu, Mithat [Hacettepe University Faculty of Medicine, Department of Radiology, Ankara (Turkey); Alan, Serdar; Ozcelik, Ugur [Hacettepe University Faculty of Medicine, Department of Pediatrics, Ankara (Turkey)

    2009-09-15

    Horseshoe lung, a rare congenital anomaly, is almost always associated with unilateral (usually right-sided) lung hypoplasia, and, in most cases, in conjunction with the scimitar syndrome. We present an 8-month-old boy with horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of the upper lobe bronchi, diagnosed by multidetector CT (MDCT) imaging. The study also revealed an anomalous origin of the left vertebral artery as the last branch of the aortic arch, distal to the left subclavian artery, and an anomalous origin of the left common carotid artery from the brachiocephalic trunk. A hemivertebral anomaly of the seventh cervical vertebra was incidentally detected. MDCT with high-quality multiplanar and three-dimensional reconstructions is a noninvasive and rapid technique for detecting the complex combination of vascular, tracheobronchial and parenchymal anomalies, and any potential bone anomalies, in one imaging study. (orig.)

  12. New neonatal classification of unilateral cleft lip and palate part 2: to predict permanent lateral incisor agenesis and maxillary growth.

    Science.gov (United States)

    Doucet, Jean-Charles; Delestan, Christian; Montoya, Pedro; Matei, Lucia; Bigorre, Michèle; Herlin, Christian; Baümler, Caroline; Daures, Jean-Pierre; Captier, Guillaume

    2014-09-01

    Objectives : To bring a neonatal classification system of unilateral cleft lip and palate and to correlate this classification with the distribution of the permanent lateral incisor and maxillary growth. Design : Retrospective with longitudinal follow-up. Setting : Tertiary. Patients : A total of 112 individuals with treated unilateral cleft lip and palate and 30 controls. Main Outcome Measures : Unilateral cleft lip and palate neonatal casts were classified anatomically in four categories, in which Class 1 corresponds to a maxillary arch with a narrow alveolar cleft; Class 2 corresponds to a balanced form; Class 3 corresponds to a wide cleft and short maxilla; and Class 4 corresponds to a wide cleft and long maxilla. The classification was correlated with the distribution of the permanent lateral incisor. Maxillary growth was evaluated using a cephalometric analysis after the age of 10 years. Results : Clinical classification of unilateral cleft lip and palate found 10 cases of Class 1 (8.9%), 34 cases of Class 2 (30.4%), 46 cases of Class 3 (41.1%), and 22 cases of Class 4 (19.6%). The permanent lateral incisor was most often present in narrower clefts (Classes 1 and 2); whereas, large clefts (Classes 3 and 4) were relatively more frequently associated with an agenesis of the permanent lateral incisor (P = .019). Maxillary growth impairment was most severe in Class 3, with a mean sella-nasion-A point angle at 71.9° ± 4.6° (P cleft width, arch form, and shape of the nasal septum, unilateral cleft lip and palate can be classified into four different classes at birth, which can all give information about permanent lateral incisor agenesis and maxillary growth.

  13. Interhemispheric Connections between the Primary Visual Cortical Areas via the Anterior Commissure in Human Callosal Agenesis.

    Science.gov (United States)

    van Meer, Nathalie; Houtman, Anne C; Van Schuerbeek, Peter; Vanderhasselt, Tim; Milleret, Chantal; Ten Tusscher, Marcel P

    2016-01-01

    Aim: In humans, images in the median plane of the head either fall on both nasal hemi-retinas or on both temporal hemi-retinas. Interhemispheric connections allow cortical cells to have receptive fields on opposite sides. The major interhemispheric connection, the corpus callosum, is implicated in central stereopsis and disparity detection in front of the fixation plane. Yet individuals with agenesis of the corpus callosum may show normal stereopsis and disparity vergence. We set out to study a possible interhemispheric connection between primary visual cortical areas via the anterior commissure to explain this inconsistency because of the major role of these cortical areas in elaborating 3D visual perception. Methods: MRI, DTI and tractography of the brain of a 53-year old man with complete callosal agenesis and normal binocular single vision was undertaken. Tractography seed points were placed in both the right and the left V1 and V2. Nine individuals with both an intact corpus callosum and normal binocularity served as controls. Results: Interhemispheric tracts through the anterior commissure linking both V1 and V2 visual cortical areas bilaterally were indeed shown in the subject with callosal agenesis. All other individuals showed interhemispheric visual connections through the corpus callosum only. Conclusion: Callosal agenesis may result in anomalous interhemispheric connections of the primary visual areas via the anterior commissure. It is proposed here that these connections form as alternative to the normal callosal pathway and may participate in binocularity.

  14. Paralinguistic Processing in Children with Callosal Agenesis: Emergence of Neurolinguistic Deficits

    Science.gov (United States)

    Brown, W.S.; Symingtion, M.; VanLancker-Sidtis, D.; Dietrich, R.; Paul, L.K.

    2005-01-01

    Recent research revealed impaired processing of both nonliteral meaning and affective prosody in adults with agenesis of the corpus callosum (ACC) and normal intelligence. Since normal children have incomplete myelination of the corpus callosum, it was hypothesized that paralanguage deficits in children with ACC would be less apparent relative to…

  15. Robot-assisted excision of seminal vesicle cyst associated with ipsilateral renal agenesis

    Directory of Open Access Journals (Sweden)

    Marcello Scarcia

    2016-01-01

    Full Text Available Seminal vesicle cysts (SVCs associated with other genitourologic abnormalities are rare. Often associated with ipsilateral renal agenesis in a symptomatic patient. In symptomatic patients open surgical excision is the treatment of choice. The laparoscopic approach is a less invasive option. Recently robot-assisted management has gained a primary role for the treatment of this condition.

  16. Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis

    Science.gov (United States)

    Xuan, Shouhong; Borok, Matthew J.; Decker, Kimberly J.; Battle, Michele A.; Duncan, Stephen A.; Hale, Michael A.; Macdonald, Raymond J.; Sussel, Lori

    2012-01-01

    Pancreatic agenesis is a human disorder caused by defects in pancreas development. To date, only a few genes have been linked to pancreatic agenesis in humans, with mutations in pancreatic and duodenal homeobox 1 (PDX1) and pancreas-specific transcription factor 1a (PTF1A) reported in only 5 families with described cases. Recently, mutations in GATA6 have been identified in a large percentage of human cases, and a GATA4 mutant allele has been implicated in a single case. In the mouse, Gata4 and Gata6 are expressed in several endoderm-derived tissues, including the pancreas. To analyze the functions of GATA4 and/or GATA6 during mouse pancreatic development, we generated pancreas-specific deletions of Gata4 and Gata6. Surprisingly, loss of either Gata4 or Gata6 in the pancreas resulted in only mild pancreatic defects, which resolved postnatally. However, simultaneous deletion of both Gata4 and Gata6 in the pancreas caused severe pancreatic agenesis due to disruption of pancreatic progenitor cell proliferation, defects in branching morphogenesis, and a subsequent failure to induce the differentiation of progenitor cells expressing carboxypeptidase A1 (CPA1) and neurogenin 3 (NEUROG3). These studies address the conserved and nonconserved mechanisms underlying GATA4 and GATA6 function during pancreas development and provide a new mouse model to characterize the underlying developmental defects associated with pancreatic agenesis. PMID:23006325

  17. Lateral incisor agenesis, canine impaction and characteristics of supernumerary teeth in a South European male population

    NARCIS (Netherlands)

    Delli, Konstantina; Livas, Christos; Bornstein, Michael M

    2013-01-01

    OBJECTIVE: To assess the prevalence of lateral incisor agenesis impacted canines and supernumerary teeth in a young adult male population. MATERIALS AND METHODS: The panoramic radiographs of 1745 military students (mean age: 18.6 ± 0.52 years) who attended the Center of Aviation Medicine of the Arme

  18. Lateral incisor agenesis, canine impaction and characteristics of supernumerary teeth in a South European male population

    NARCIS (Netherlands)

    Delli, Konstantina; Livas, Christos; Bornstein, Michael M

    2013-01-01

    OBJECTIVE: To assess the prevalence of lateral incisor agenesis impacted canines and supernumerary teeth in a young adult male population. MATERIALS AND METHODS: The panoramic radiographs of 1745 military students (mean age: 18.6 ± 0.52 years) who attended the Center of Aviation Medicine of the Arme

  19. Case Report: Chronic Recurrent Unilateral Pulmonary Infection: Result of Congenital Unilateral Agenesis of Pulmonary Artery.

    Science.gov (United States)

    Al Jabbari, Odeaa; Abu Saleh, Walid K; Ramchandani, Mahesh; Scheinin, Scott

    2016-01-01

    Unilateral agenesis of the pulmonary artery (UAPA) is a rare congenital anomaly. This report describes a 52-year-old female who gave a long history of chronic, recurrent, left-sided pulmonary infections related to UAPA. For many years, she was managed medically but the infection continued to recur. She eventually underwent left pneumonectomy and made a good recovery.

  20. Cardiac defect with diaphragmatic hernia and left lung agenesis--heart disease and other anomalies.

    Science.gov (United States)

    Palma, G; Giordano, R; Russolillo, V; Vosa, C

    2010-10-01

    This report describes a rare case of left pulmonary agenesis associated with congenital diaphragmatic hernia and congenital heart disease in a 2-year-old child with pulmonary hypertension. We performed direct radical correction of the congenital heart defect. The postoperative course was challenging but without major complications.

  1. Unilateral pulmonary agenesis and esophageal atresia with a tracheoesphageal fistula-23 year followup

    Directory of Open Access Journals (Sweden)

    Michael Curci

    2015-04-01

    Full Text Available Pulmonary agenesis, esophageal atresia and a tracheoesophageal fistula (EA + TEF are a rare combined congenital anomalies associated with a high morbidity and mortality. For those patients that have survived these malformation, there has been limited long-term follow up. This case report describes a 23-year followup with evaluation of the patient's pulmonary, cardiac and gastrointestinal function.

  2. Bilateral internal carotid agenesis: value of CT angiography and correlation to embryogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Pilleul, F.; Rouviere, O. [Dept. of Radiology, Hopital Edouard Herriot, Lyon (France); Guibaud, L.; Pracros, J.P. [Dept. of Pediatric Imaging, Hopital Debrousse, Lyon (France); Badinand, N. [Dept. of Pediatric Neurology, Hopital Debrousse, Lyon (France)

    2001-05-01

    Bilateral internal carotid artery agenesis is an uncommon disease, difficult to differentiate from bilateral carotid artery thrombosis. A few case reports have described the contribution of conventional angiogram to make the diagnosis and recognize the anatomic details of this rare malformation. Advantages of CT angiography as a non-invasive radiologic tool are discussed in this case report. (orig.)

  3. Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

    Science.gov (United States)

    Malmgren, B; Andersson, K; Lindahl, K; Kindmark, A; Grigelioniene, G; Zachariadis, V; Dahllöf, G; Åström, E

    2017-01-01

    Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, mainly caused by mutations in the collagen type I genes (COL1A1 and COL1A2). Tooth agenesis is a common feature of OI. We investigated the association between tooth agenesis and collagen type I mutations in individuals with OI. In this cohort study, 128 unrelated individuals with OI were included. Panoramic radiographs were analyzed regarding dentinogenesis imperfecta (DGI) and congenitally missing teeth. The collagen I genes were sequenced in all individuals, and in 25, multiplex ligation-dependent probe amplification was performed. Mutations in the COL1A1 and COL1A2 genes were found in 104 of 128 individuals. Tooth agenesis was diagnosed in 17% (hypodontia 11%, oligodontia 6%) and was more frequent in those with DGI (P = 0.016), and in those with OI type III, 47%, compared to those with OI types I, 12% (P = 0.003), and IV, 13% (P = 0.017). Seventy-five percent of the individuals with oligodontia (≥6 missing teeth) had qualitative mutations, but there was no association with OI type, gender, or presence of DGI. The prevalence of tooth agenesis is high (17%) in individuals with OI, and OI caused by a qualitative collagen I mutation is associated with oligodontia. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. MSX1, PAX9, and TGFA contribute to tooth agenesis in humans.

    Science.gov (United States)

    Vieira, A R; Meira, R; Modesto, A; Murray, J C

    2004-09-01

    In this study, we sought to determine the association between tooth agenesis and DNA sequence variation in the genes MSX1 and PAX9 in an ethnically diverse human population. Since cleft lip/palate is also associated with both tooth agenesis and the gene TGFA, we included TGFA in the analysis as well. Cheek swab samples were obtained for DNA analysis from 116 case/parent trios. Probands had at least one developmentally missing tooth, excluding third molars. Genotyping was performed by single-strand conformational polymorphism or kinetic polymerase chain-reaction assays. Transmission distortion of the marker alleles and DNA sequence analysis was performed. Results showed that tooth agenesis is associated with markers of the genes MSX1 and TGFA. No mutations were found in MSX1 or PAX9 coding regions. There were statistically significant data suggesting that MSX1 interacts with PAX9. These findings suggest that MSX1, PAX9, and TGFA play a role in isolated dental agenesis.

  5. Agenesis of Isthmus of the Thyroid Gland in a Patient with Graves-Basedow Disease and a Solitary Nodule

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    Omer Faruk Ozkan

    2013-01-01

    Full Text Available The thyroid is a vascular endocrine gland with two lateral lobes connected by a narrow, median isthmus. Although a wide range of congenital anomalies of the thyroid gland has been reported in the literature, agenesis of the thyroid isthmus is a very rare congenital anomaly. Thyroid isthmus agenesis does not manifest clinical symptoms, and it can be confused with other thyroid pathologies. We describe a patient with no isthmus of the thyroid, associated with Graves-Basedow disease. Thyroid isthmus agenesis should be kept in mind in order for surgical procedures involving thyroid pathologies to be carried out safely.

  6. Perawatan Teknik Begg Pada Maloklusi Klas I Dengan Kaninus Impaksi dan Insisivus Lateral Agenesis

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    Kristina Wijaya Gunawan

    2013-06-01

    Full Text Available Impaksi kaninus maksila sering dijumpai pada sisi palatal daripada labial. Agenesis adalah anomali pertumbuhan akibat tidak ada satu atau lebih benih gigi. Laporan kasus ini bertujuan memaparkan kemajuan perawatan kasus Maloklusi klas I dengan kaninus impaksi dan insisivus lateral agenesis menggunakan alat cekat teknik Begg. Seorang pasien usia 20 tahun datang mengeluhkan gigi-gigi depan atas dan bawah yang berjejal sehingga mengganggu penampilan. Perawatan bertujuan untuk koreksi Maloklusi Angle klas I tipe dentoskeletal dengan deepbite, crossbite gigi 25 terhadap 35, pergeseran midline dental maksila dan mandibula ke kanan sebesar 2,5 mm dan 3,0 mm, 13 impaksi vertikal pada sisi labial, 42 agenesis, dan edentulous parsial regio 36. Koreksi dilakukan dengan pencabutan 14, 25, pemanfaatan ruang bekas pencabutan 36 dan exposure gigi kaninus yang impaksi. Tahap pertama teknik Begg adalah leveling, unraveling, dan bite opening, diikuti dengan koreksi midline dan penutupan sisa ruang bekas pencabutan. Kesimpulan: perawataan ortodontik menggunakan teknik Begg yang dilakukan simultan dengan exposure kaninus impaksi labial dengan closed eruption technique dapat memberikan hasil yang memuaskan. Treatment for Class I Malocclusion with Impacted Canine and Agenesis Lateral Incisor Using Begg Technique. Maxillary canine impaction occurs commonly on the palatal than labial side. Agenesis is a developmental anomaly condition because of the absence of one or more tooth buds. This case report aims to explain the treatment progress of class I malocclusion with impacted canine and agenesis lateral incisor using fixed appliance through Begg technique. A 20-year-old female patient complained about her upper and lower anterior dental crowding that disturbed her appearance. The treatment aims to correct the Angle class I malocclusion dentoskeletal types with deepbite, crossbite 25 to 35, maxillary and mandibulary dental midline shift to the right by 2.5 mm and 3.0 mm

  7. Renal Urologic Anomalies Presenting In Adult Identical Twins

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    Robert A. Edelstein

    2004-01-01

    Full Text Available Two sets of identical adult twins recently presented to our hospital. In one case, the patients demonstrated (ipsilateral renal agenesis. In the other, the patients presented approximately one year apart with symptomatic (ipsilateral ureteropelvic junction obstructions. Although the literature suggests a few reports of this type in the pediatric and newborn population, the authors are unaware of similar reports in adults.

  8. Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum.

    Science.gov (United States)

    Jang, Michelle S; Roldan, Ashley N; Frausto, Ricardo F; Aldave, Anthony J

    2014-07-01

    Posterior polymorphous corneal dystrophy (PPCD) is a dominantly inherited disorder of the corneal endothelium that has been associated with mutations in the zinc-finger E-box binding homeobox 1 gene (ZEB1) gene in approximately one-third of affected families. While the corneal dystrophies have traditionally been considered isolated disorders of the corneal endothelium, we have recently identified two cases of maldevelopment of the corpus callosum in unrelated individuals with PPCD. The proband of the first family was diagnosed shortly after birth with agenesis of the corpus callosum and several other developmental abnormalities. Karyotype, FISH and whole genome copy number variant analyses were normal. She was subsequently diagnosed with PPCD, prompting screening of the ZEB1 gene, which identified a novel deletion (c.449delG; p.(Gly150Alafs*36)) present in the heterozygous state that was not identified in either unaffected parent. The proband of the second family was diagnosed several months after birth with thinning of the corpus callosum and PPCD. Whole genome copy number variant analysis revealed a 1.79 Mb duplication of 17q12 in the proband and her father and brother, neither of whom had PPCD. ZEB1 sequencing identified a novel deletion (c.1913-1914delCA; p.(Ser638Cysfs*5)) present in the heterozygous state, which was also identified in the proband's affected mother. Thus, we report the first two cases of the association of PPCD with a developmental abnormality of the brain, in this case maldevelopment of the corpus callosum.

  9. Sound localization in callosal agenesis and early callosotomy subjects: brain reorganization and/or compensatory strategies.

    Science.gov (United States)

    Lessard, Nadia; Lepore, Franco; Villemagne, Jean; Lassonde, Maryse

    2002-05-01

    In order to evaluate the callosal involvement in sound localization, the present study examined the response accuracy of acallosal and early callosotomized subjects to monaural and binaural auditory targets presented in three-dimensional space. In these subjects, bilateral localization cues, such as interaural time and level differences, are integrated at the cortical and subcortical levels without the additional support of the callosal commissure. Because acallosal and early-callosotomized subjects have developed with this reduced source of binaural activation of cortical cells, they might have perfected their ability to use monaural sound localization cues. This hypothesis was tested by assessing localization performance under both binaural and monaural listening conditions. Five subjects with callosal agenesis, one callosotomized subject operated early in life and 19 control subjects were asked to localize broad-band noise bursts (BBNBs) of fixed intensity in the horizontal plane in an anechoic chamber. BBNBs were delivered through randomly selected loudspeakers. Two conditions were tested: (i) localization of a stationary sound source; and (ii) localization of a moving sound source. Listeners had to report the apparent stimulus location by pointing to its perceived position on a graduated perimeter. The results indicated that the acallosal subjects were less accurate than controls, but only in the binaural moving sound condition. More interestingly, in the monaural testing conditions, some of the acallosal subjects and the early-callosotomized subject performed significantly better than control subjects. This suggests that, because of the absence of the corpus callosum, these subjects compensate for their reduced access to cortically determined binaural cues by making more efficient use of monaural cues.

  10. 家族性骶椎发育不全六例的临床及X线、MRI表现分析%Magnetic resonance imaging and radiological findings of familial sacral agenesis: a report of 6 cases

    Institute of Scientific and Technical Information of China (English)

    田彤彤; 吴海涛; 王守安; 陈文新; 胡晓华; 颜连启; 吴晶涛

    2014-01-01

    分析一家族内6例骶椎发育不全病例的临床和影像学资料.在MRI检查影像上,6例患者骶椎均不同程度缺如,其中2例伴有腰椎形态发育畸形,2例骶椎形态发育畸形.1例出现第4、5腰椎和第5腰椎、第1骶椎椎体骨质融合.在X线影像上,4例伴脊柱侧突.6例均未见脊髓栓系、脊髓纵裂及脊膜膨出的征象.%The clinical characteristics and radiological data of 6 cases of sacral agenesis in one single family were analyzed and a literature review was performed.On magnetic resonance imaging (MRI),all of them presented with a partial absence of sacral vertebra,including associations with lumbar abnormalities (n =2) and sacral agenesis (n =2).One case presented with fourth/fifth lumbar vertebra bone fusion and fifth lumbar/first sacral vertebra bone fusion.On radiology,4 cases had concurrent scoliosis.None of them had tethered cord,diastematomyelia or meningocele.The understanding of sacral agenesis may be improved after reviewing and summarizing clinical features and radiological findings.

  11. Bladder paraganglioma with renal agenesis: A possible new association and its implications in the light of REarranged in transfection gene genetics

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    Rohan Satish Valsangkar

    2015-01-01

    Full Text Available Pheochromocytoma/paraganglioma and renal agenesis are commonly reported conditions. Their coexistence, however, is rare, with few cases reported. We report the case of a 21-year-old male who presented with painless hematuria. He was found to have congenital absent right kidney along with bladder mass on imaging. Examination including blood pressure was normal. He underwent cystoscopy that showed a solid looking tumor on the anterior wall. Paraganglioma was suspected due to intraoperative rise in blood pressure during resection and was confirmed on histopathology. Subsequently after work up and preoperative alpha blockade, patient underwent partial cystectomy and excision of the paravesical mass. Histopathology showed paraganglioma confined to bladder wall with surgical margins free and a paravesical mass that was seminal vesicle cyst. On follow-up, patient is normotensive and asymptomatic. This coexistence of paraganglioma and renal agenesis may have a common genetic mechanism in the form of REarranged in Transfection (RET gene mutation. This is a well-characterized gene, mutations of which are known to be associated with both conditions. Current knowledge of the role of RET gene in both conditions is reviewed to put forth RET mutation as the possible common underlying genetic mechanism along with possible clinical implications of the combination.

  12. Agenesis of the dorsal pancreas: systematic review of a clinical challenge

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    Javier A. Cienfuegos

    Full Text Available Background: Agenesis of the dorsal pancreas is a rare malformation. Since 1911 and until 2008, 53 cases have been reported. Several authors have recently described the association of this anomaly with neoplasia of the ventral pancreas, thus we performed a systematic review of the literature from 2008 to 2015. Methods: A systematic review of the Medline and ISI Web of Science Databases from 2008 until 2015 was carried out, and 30 articles which met the inclusion criteria were identified that included a total of 53 patients: 7 children and 46 adults. Conclusions: Although dorsal pancreatic agenesis is a rare malformation, given its association with non-alcoholic pancreatitis and neoplasia of the residual pancreas, physicians should maintain an expectant attitude.

  13. [Seminal vesicle cyst associated with homolateral renal agenesis and megaureter. Apropos of a case].

    Science.gov (United States)

    Rabii, R; Aboutaieb, R; Joual, A; el Mrini, M; Benjelloun, S

    1997-01-01

    We report a case of a 24-year-old male patient with cystic dilatation of the seminal vesicle associated with renal agenesis and megaureter. This patient complained of left renal colic with pollakiuria. We performed intravenous urography and ultrasound showed a cyst in the seminal vesicle associated with left megaureter and right renal agenesis. Treatment consisted of resection of the cyst and reimplantation of the left ureter into the bladder. No postoperative complications were observed. This association is rare and can be explained by the common embryological origin of the seminal vesicle and kidney and ureter. Its diagnosis is now facilitated by ultrasound and CT. The treatment of this tumor is surgical only when the lesions are responsible for clinical symptoms.

  14. Dental root agenesis following radiation and antineoplastic therapy: A Case Report

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    Abdul Hafiz

    2016-01-01

    Full Text Available The survival rates of patients suffering from various childhood neoplasms have improved dramatically with the advent of chemo-radiation therapy. The harmful effects of chemo-radiation therapy in the oro-facial region such as root agenesis, short roots, impaired amelogenesis, dentinogenesis, radiation caries, and other soft tissue pathologies are well recognized. In spite of these documented risks, the antineoplastic treatment modalities continue to serve the patient for overall improvement in survival and quality of life. However, a thorough understanding of the growth and development process and its relation with the complex antineoplastic treatment is very important for all clinicians. Such awareness could significantly improve the status of patients in the posttreatment period with the implementation of proper preventive and interceptive measures. This article intends to document a case of root agenesis that developed secondary to chemo-radiation therapy in a 12-year-old girl.

  15. [Pancreatic cancer in a patient with congenital agenesis of the dorsal pancreas].

    Science.gov (United States)

    Oki, Yusuke; Onoyama, Hirohiko; Nikaido, Mitsuhiro; Iinuma, Shoji; Endo, Koji; Tomita, Yumi; Mizuno, Katsuhiko; Yasui, Hiroshi

    2013-06-01

    A 65-year-old man with back pain showed a hypovascular lesion of the head of the pancreas on dynamic computed tomography and abdominal ultrasonography. The distal portion of the pancreas was not visible. Endoscopic retrograde cholangiopancreatography revealed pancreatic duct obstruction, and the duodenal minor papilla was not visible. Therefore, we diagnosed the patient's condition as stage IVa pancreatic cancer with congenital agenesis of the dorsal pancreas. The patient underwent successful chemotherapy with 3 courses of gemcitabine and S-1, which was followed by pancreaticoduodenectomy. Pathological staging revealed invasive ductal carcinoma, pT3, pN0, pM0, stage III. We report a rare case of pancreatic cancer with congenital agenesis of the dorsal pancreas.

  16. Diffusion-weighted imaging in fetuses with unilateral cortical malformations and callosal agenesis.

    Science.gov (United States)

    Glenn, O A; Quiroz, E M; Berman, J I; Studholme, C; Xu, D

    2010-06-01

    DWI was performed in fetuses with callosal agenesis and unilateral cortical malformations. ADC values were retrospectively measured in the developing white matter underlying the cortical malformation and compared with the corresponding contralateral white matter. In all 3 patients, ADC values were lower under the areas of cortical malformation compared with the normal contralateral side. Our findings suggest that there are structural differences in the developing white matter underlying areas of cortical malformation.

  17. The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations.

    Science.gov (United States)

    Richieri-Costa, Antonio; Guion-Almeida, Maria Leine

    2004-01-01

    We report ten sporadic cases of Brazilian patients with facial midline defects, callosal agenesis, basal encephalocele, and ocular anomalies. This very rare cluster of anomalies has been well reported before. However, only until recently it is recognized as a syndrome belonging to frontonasal dysplasia spectrum. The ten cases confirm a distinct clinical entity and help to define the phenotype more precisely than previously. Up to now etiology remains unknown, although we conjecture that it is due to a mutation in TGIF gene.

  18. Interhemispheric Connections between the Primary Visual Cortical Areas via the Anterior Commissure in Human Callosal Agenesis

    OpenAIRE

    van Meer, Nathalie; Houtman, Anne C.; Van Schuerbeek, Peter; Vanderhasselt, Tim; Milleret, Chantal; ten Tusscher, Marcel P.

    2016-01-01

    Aim: In humans, images in the median plane of the head either fall on both nasal hemi-retinas or on both temporal hemi-retinas. Interhemispheric connections allow cortical cells to have receptive fields on opposite sides. The major interhemispheric connection, the corpus callosum, is implicated in central stereopsis and disparity detection in front of the fixation plane. Yet individuals with agenesis of the corpus callosum may show normal stereopsis and disparity vergence. We set out to study...

  19. Surgical Treatment of a Rare Isolated Bilateral Agenesis of Anterior and Posterior Cruciate Ligaments

    OpenAIRE

    2014-01-01

    The isolated bilateral agenesis of both cruciate ligaments is a rare congenital disorder. A 17-year-old male came to our attention due to an alteration in gait pattern, pain, and tendency to walk on the forefoot with his knee flexed. The patient did not recall previous injuries. Upon physical examination anterior and posterior chronic instability were observed. Radiographic examination of both knees showed hypoplasia of the tibial eminence, a hypoplastic lateral femoral condyle, and a narrow ...

  20. Neonatal repair of total anomalous pulmonary venous connection and lung agenesis.

    Science.gov (United States)

    Kaku, Yuji; Nagashima, Mitsugi; Matsumura, Goki; Yamazaki, Kenji

    2015-07-01

    Here we report a neonatal case of total anomalous pulmonary venous connection with left lung agenesis. Diagnostic imaging demonstrated that the left pulmonary veins were totally absent and the right pulmonary veins connected with the common pulmonary chamber. Drainage from the common pulmonary venous chamber entered the persistent left suerior vena cava. In addition, it revealed complete absence of the left main bronchus and left lung vessels. The neonate successfully underwent surgical repair 18 days after birth.

  1. Unilateral renal agenesis: case review of ambulatory pediatric nephrology clinics in Cali

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    Consuelo Restrepo de Rovetto

    2010-09-01

    Full Text Available Introduction: Unilateral renal agenesis is a frequent renal malformation with incidence of 1 per 1000 live born children. There are no statistics nor protocols to manage and follow-up these patients. Usually asymptomatic, it can be early detected by prenatal ultrasound, allowing opportune detection and adequate follow up. The goal is to describe main features found in children with renal agenesis at four ambulatory pediatric nephrology clinics in Cali, Colombia: Hospital Universitario del Valle (HUV, Club Noel Children’s hospital and the private practice of two pediatric nephrologists. Methods: This is a retrospective descriptive study in a series of cases with congenital renal agenesis diagnosed between January, 1995 and December 2007, of patients under 18 years of age and based on a review of clinical records. Results: 43 patients were found, 51.2% males, 88% from the department of Valle del Cauca. Prenatal diagnoses were conducted in only 21% of these patients; agenesis was right in 48.8% and left in 51.2%. In 46.5%, association with other pathologies was found: occult spinal bifida, congenital scoliosis, and Klippel-Feil sequence. Compensatory renal hypertrophy was reported in 39.5% of the patients, 42% had episodes of urinary tract infection, 31% vesicoureteral reflux and 10% proteinuria. Four male patients (9.3% developed renal failure. The average follow-up was 6.6 years. Conclusions: Prenatal diagnose was not very frequent in our set of cases. Urinary tract infection and vesicoureteral reflux were common, increasing the risk of renal deterioration. Prolonged follow up is suggested, with unified protocols to prevent renal failure.

  2. Unilateral renal agenesis: case review of ambulatory pediatric nephrology clinics in Cali

    Directory of Open Access Journals (Sweden)

    Consuelo Restrepo de Rovetto

    2010-03-01

    Full Text Available Introduction: Unilateral renal agenesis is a frequent renal malformation with incidence of 1 per 1000 live born children. There are no statistics nor protocols to manage and follow-up these patients. Usually asymptomatic, it can be early detected by prenatal ultrasound, allowing opportune detection and adequate follow up. The goal is to describe main features found in children with renal agenesis at four ambulatory pediatric nephrology clinics in Cali, Colombia: Hospital Universitario del Valle (HUV, Club Noel Children’s hospital and the private practice of two pediatric nephrologists.Methods: This is a retrospective descriptive study in a series of cases with congenital renal agenesis diagnosed between January, 1995 and December 2007, of patients under 18 years of age and based on a review of clinical records.Results: 43 patients were found, 51.2% males, 88% from the department of Valle del Cauca. Prenatal diagnoses were conducted in only 21% of these patients; agenesis was right in 48.8% and left in 51.2%. In 46.5%, association with other pathologies was found: occult spinal bifida, congenital scoliosis, and Klippel-Feil sequence. Compensatory renal hypertrophy was reported in 39.5% of the patients, 42% had episodes of urinary tract infection, 31% vesicoureteral reflux and 10% proteinuria. Four male patients (9.3% developed renal failure. The average follow-up was 6.6 years.Conclusions: Prenatal diagnose was not very frequent in our set of cases. Urinary tract infection and vesicoureteral reflux were common, increasing the risk of renal deterioration. Prolonged follow up is suggested, with unified protocols to prevent renal failure.

  3. Uterus Didelphys with Obstructed Hemivagina and Ipsilateral Renal Agenesis: The Radiologic Findings of Five Cases

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    Rhee, Sun Jung; Yi, Boem Ha; Park, Seong Jin; Lee, Hae Kyung; Lee, Kwon Hae; Lee, Hae Hyeog; Kim, Tae Hee [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of)

    2010-08-15

    To evaluate the imaging findings of uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis. From March 2003 to December 2008, five patients with uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis were evaluated as part of this study. We retrospectively reviewed the CT, ultrasound, and MRI findings as well as the medical records of each patient. The patients initially underwent an imaging study for abdominal pain (n=3), recurrent vaginal bleeding (n=1), and prenatal evaluation (n=1). Of the five patients that underwent US, four had hematocolpos and two of them had hematometra. Moreover, three patients underwent a CT examination. The MR examination of four patients revealed hematocolpos (n=3), hematometra (n=1), and a tubular structure resembling an ectopic ureter (n=2). The gynecologic examination of a patient without hematocolpos revealed a pinpoint hole in the vaginal septum. Two of four patients with hematocolpos underwent a vaginal septectomy, which resulted in an improvement of the symptoms. The most common finding of patients with uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis is vaginal fluid collection. Hematometra is not a consistent finding and can be transient according to the menstrual cycle. MR is the most useful imaging modality for the diagnosis of an ectopic ureter.

  4. [Pediatric neurofunctional intervention in agenesis of the corpus callosum: a case report].

    Science.gov (United States)

    Pacheco, Sheila Cristina da Silva; Queiroz, Ana Paula Adriano; Niza, Nathália Tiepo; da Costa, Letícia Miranda Resende; Ries, Lilian Gerdi Kittel

    2014-09-01

    To describe a clinical report pre- and post-neurofunctional intervention in a case of agenesis of the corpus callosum. Preterm infant with corpus callosum agenesis and hypoplasia of the cerebellum vermis and lateral ventricles, who, at the age of two years, started the proposed intervention. Functional performance tests were used such as the neurofunctional evaluation, the Gross Motor Function Measure and the Gross Motor Function Classification System. In the initial evaluation, absence of equilibrium reactions, postural transfers, deficits in manual and trunk control were observed. The intervention was conducted with a focus on function, prioritizing postural control and guidance of the family to continue care in the home environment. After the intervention, there was an improvement of body reactions, postural control and movement acquisition of hands and limbs. The intervention also showed improvement in functional performance. Postural control and transfers of positions were benefited by the neurofunction intervention in this case of agenesis of the corpus callosum. The approach based on function with activities that involve muscle strengthening and balance training reactions, influenced the acquisition of a more selective motor behavior. Copyright © 2014 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  5. Pediatric neurofunctional intervention in agenesis of the corpus callosum: a case report☆

    Science.gov (United States)

    Pacheco, Sheila Cristina da Silva; Queiroz, Ana Paula Adriano; Niza, Nathália Tiepo; da Costa, Letícia Miranda Resende; Ries, Lilian Gerdi Kittel

    2014-01-01

    Objective: To describe a clinical report pre- and post-neurofunctional intervention in a case of agenesis of the corpus callosum. Case description: Preterm infant with corpus callosum agenesis and hypoplasia of the cerebellum vermis and lateral ventricles, who, at the age of two years, started the proposed intervention. Functional performance tests were used such as the neurofunctional evaluation, the Gross Motor Function Measure and the Gross Motor Function Classification System. In the initial evaluation, absence of equilibrium reactions, postural transfers, deficits in manual and trunk control were observed. The intervention was conducted with a focus on function, prioritizing postural control and guidance of the family to continue care in the home environment. After the intervention, there was an improvement of body reactions, postural control and movement acquisition of hands and limbs. The intervention also showed improvement in functional performance. Comments: Postural control and transfers of positions were benefited by the neurofunction intervention in this case of agenesis of the corpus callosum. The approach based on function with activities that involve muscle strengthening and balance reactions training, influenced the acquisition of a more selective motor behavior. PMID:25479858

  6. Effects of callosal agenesis on rotational side preference of BALB/cCF mice in the free swimming test.

    Science.gov (United States)

    Filgueiras, Cláudio C; Manhães, Alex C

    2004-11-05

    In order to test the hypothesis that the ontogenetic development of the corpus callosum is related to the establishment of behavioral laterality, the rotatory behavior in the free swimming test was studied in male mice of the BALB/cCF strain, in which approximately 20% of the animals present total or partial callosal agenesis. All animals were submitted to three sessions of the free-swimming rotatory test in three different sessions (diameter of the recipient = 21 cm; session duration = 5 min; inter-test interval = 48 h). The number and direction of the 30 and 360 degrees turns were recorded. Animals were classified as side-consistent turners (to the right or to the left) when they did not change their preferred side of rotation in all three sessions and in both turning units. In general our results suggested that acallosal animals present more pronounced laterality than normal ones. In the acallosal group, the percentage of consistent turners was significantly higher than that of non-consistent turners. The percentage of animals that presented strong turning preferences in the acallosal group was higher than in the normal group. In first session, the acallosal group presented a higher average number of turns to preferred side than the normal group. Taken together, our results constitute an endorsement to the hypothesis that the normal development of the corpus callosum is related to the establishment of cerebral laterality.

  7. Intracranial lipomas. Case presentations and CT features

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    Hayashi, Takashi; Shojima, Kazuhito; Moritaka, Kazuhiko; Utsunomiya, Hidetsuna; Konishi, Jun (St. Mary' s Hospital, Kurume, Fukuoka (Japan))

    1984-03-01

    Intracranial lipomas are very rare and reports of infantile lipomas are scarce. Nine cases of intracranial lipomas, five in infants and four in adults are described and characteristic findings of the CT are presented. Two of the six cases involved lipomas at the corpus callosum that were associated with frontal dysraphism and cranium bifidum at the midline of frontal region. Five of the nine cases involved lipomas at the quadrigeminal cistern. In one case with an advanced enlargement in circumference of the head in the perinatal period, a V-P shunt was conducted for obstructive hydrocephalus. Another case had widely ranging agenesis of the corpus callosum associated with an interhemispheric cyst showing the right sided parietal and occipital lobes through the callosal agenesis. One of the nine cases had a lipoma in the left sylvian fissure and in the adult was in the interpeduncular cistern. Four of the nine cases were associated with agenesis of the corpus callosum. Based on these cases and published reports, the CT features of intracranial lipoma are discussed.

  8. Prevalence of tooth agenesis and peg-shaped maxillary lateral incisor associated with palatally displaced canine (PDC) anomaly.

    Science.gov (United States)

    Peck, S; Peck, L; Kataja, M

    1996-10-01

    Fifty-eight nonsyndromic North American white orthodontic patients with palatal displacement of one or both maxillary canine teeth were studied for associated tooth agenesis and peg-shaped maxillary lateral incisors. Agenesis of permanent teeth was identified by x-ray film analysis. Conical crown-size reduction (peg-shape anomaly) of the maxillary lateral incisor (l2) was determined by direct observation. Increases in absence of third molars and second premolars associated with the palatally displaced canine (PDC) anomaly were statistically very highly significant compared with normative data for tooth-agenesis prevalence. In contrast, the prevalence of l2 agenesis in the PDC sample showed no difference statistically compared with reference values. Reasons for this posterior site-specific suppression of tooth formation are not clear. The l2 peg-shape anomaly exceeded a 10-fold elevation in expression in the PDC sample, a very highly significant increase from normal prevalence. The findings are consistent with a hypothesis that the anomalies of tooth agenesis, tooth-size reduction, and PDC are biologic covariables in a complex of genetically related dental disturbances.

  9. Thrombectomy and surgical reconstruction for extensive iliocaval thrombosis in a patient with agenesis of the retrohepatic vena cava and atresia of the left renal vein.

    Science.gov (United States)

    La Spada, Michele; Stilo, Francesco; Carella, Giuseppe; Salomone, Ignazio; Benedetto, Filippo; De Caridi, Giovanni; Spinelli, Francesco

    2011-08-01

    In 80% of the patients presenting with deep-venous thrombosis (DVT), a risk factor can be identified. An absent or hypoplastic infrarenal vena cava is a rare risk factor for DVT in young adults. In these cases, the prevalence of congenital anomalies of the inferior vena cava (IVC) is estimated at 0.5% of the general population, up to 5% in young people. The association with coagulopathy increases the risk of DVT. We report a case of a young man who presented with a massive caval and iliofemoral-popliteal thrombosis in presence of the agenesis of retrohepatic inferior vena cava and atresia of the left renal vein. Open thrombectomy and caval reconstruction with a polytetrafluoroethylene graft were performed. Surgical option with vein reconstruction was preferred to prevent new episodes of thrombosis and the risk of acute renal failure.

  10. [Agenesis of the right carotid in a subject with dextrocardia. Diagnostic imaging in 1 case with unique characteristics].

    Science.gov (United States)

    Casiglia, E; Spandri, P; Mos, L; Sarti, F; Dalla Pietà, G; Bongiovì, S; Sotira, A

    1990-06-01

    A man aged 51 with dextrocardia and right common and internal carotid artery agenesis is described. Cerebral blood flow is allowed internally by the left carotid and left vertebral antegrade flow, while right artery has only the function to drain the blood from the left side of vertebral system. A small external right carotid does exist, but it is separated from the cerebral hemodynamics. Diagnosis of dextrocardia was made on the basis of the standard chest X-ray, that of carotid agenesis on the basis of selective digital arteriography, color-Doppler and magnetic resonance. The diagnosis of congenital agenesis was based on the absence of a foramen caroticus and of a canalis caroticus. Large anasthomosis between the left and right side of cerebral system permit a normal perfusion to left cerebral hemispherium and a quite normal life.

  11. Osseous oral hyaline ring granuloma mimicking a mandible tumor in a child with congenital agenesis of the corpus callosum

    Science.gov (United States)

    Neves-Silva, Rodrigo; Ferreira-Gomes, Camilla-Borges; Palmier, Natalia; Brum-Corrêa, Marcelo; Paes-Almeida, Oslei; Ajudarte-Lopes, Marcio; Agustin-Vargas, Pablo

    2017-01-01

    Background Hyaline ring granuloma (HRG) of the oral cavity is an uncommon disorder considered to be a foreign-body reaction resulting from implantation of food vegetable particles. Microscopically, it is characterized by the presence of structures of hyaline rings in an inflamed fibrous tissue background, which contains multinucleated giant cells. Material and Methods We present the case of a 4-year-old boy diagnosed with a mandible osseous HRG, which showed clinical and tomographic aspects suggestive of an aggressive bone tumor. Results The patient underwent surgical exploration and histopathologic analysis showed fragments composed predominantly of widespread dense connective tissue with an acute and chronic inflammatory infiltrate containing multinucleated giant cells and scattered areas of eosinophilic material associated with hyaline rings, strongly suggestive of vegetable particles. The eosinophilic material was positive for periodic acid-Schiff (PAS) and resistant to diastase digestion. These features led to diagnosis of osseous HRG. Scanning electron microscopy (SEM) analysis was performed for illustrative purposes and the multiple structures resembling vegetable particles were characterized in more detail. Conclusions Although rare, this case highlights the importance of the clinician’s awareness regarding the existence of an osseous counterpart of HRG. Key words:Agenesis of the corpus callosum, child, hyaline ring granuloma, intraosseous, mandible, pulse granuloma. PMID:28210458

  12. Agenesia de veia cava inferior associada à trombose venosa profunda Agenesis of inferior vena cava associated with deep venous thrombosis

    Directory of Open Access Journals (Sweden)

    Clovis Luis Konopka

    2010-09-01

    Full Text Available A agenesia da veia cava inferior é uma anomalia congênita rara, que foi recentemente identificada como um importante fator de risco para o desenvolvimento e a recorrência de trombose venosa profunda de membros inferiores em jovens. O objetivo deste trabalho foi relatar o caso de uma paciente que apresentou trombose venosa profunda dois meses após a realização de cirurgia de varizes. A angiotomografia computadorizada demonstrou a presença de anomalia venosa complexa com ausência da veia cava inferior.The agenesis of the inferior vena cava is a rare congenital anomaly, which was recently identified as an important risk factor for the development and recurrence of deep venous thrombosis especially in young people. The goal of this work was to report the case of a patient who presented deep venous thrombosis approximately two months after varicose vein surgery. The computerized angiotomography demonstrated the presence of a complex venous anomaly with absence of the inferior vena cava.

  13. Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

    Science.gov (United States)

    Tassano, Elisa; Jagannathan, Vidhya; Drögemüller, Cord; Leoni, Massimiliano; Hytönen, Marjo K; Severino, Mariasavina; Gimelli, Stefania; Cuoco, Cristina; Di Rocco, Maja; Sanio, Kirsi; Groves, Andrew K; Leeb, Tosso; Gimelli, Giorgio

    2015-03-01

    We report on the molecular characterization of a microdeletion of approximately 2.5 Mb at 2p11.2 in a female baby with left congenital aural atresia, microtia, and ipsilateral internal carotid artery agenesis. The deletion was characterized by fluorescence in situ hybridization, array comparative genomic hybridization, and whole genome re-sequencing. Among the genes present in the deleted region, we focused our attention on the FOXI3 gene. Foxi3 is a member of the Foxi class of Forkhead transcription factors. In mouse, chicken and zebrafish Foxi3 homologues are expressed in the ectoderm and endoderm giving rise to elements of the jaw as well as external, middle and inner ear. Homozygous Foxi3-/- mice have recently been generated and show a complete absence of the inner, middle, and external ears as well as severe defects in the jaw and palate. Recently, a 7-bp duplication within exon 1 of FOXI3 that produces a frameshift and a premature stop codon was found in hairless dogs. Mild malformations of the outer auditory canal (closed ear canal) and ear lobe have also been noted in a fraction of FOXI3 heterozygote Peruvian hairless dogs. Based on the phenotypes of Foxi3 mutant animals, we propose that FOXI3 may be responsible for the phenotypic features of our patient. Further characterization of the genomic region and the analysis of similar patients may help to demonstrate this point.

  14. Laparoscopic and gasless laparoscopic sigmoid colon vaginoplasty in women with vaginal agenesis

    Institute of Scientific and Technical Information of China (English)

    ZHONG Chen-xi; WU Ji-xiang; LIANG Jie-xiong; WU Qing-hua

    2012-01-01

    Background In the past several decades we have seen multiple advances in the reconstruction for girls born with vaginal agenesis.This study aimed to evaluate the technical feasibility,anatomical and functional outcomes of one-stage laparoscopic and gasless laparoscopic vaginoplasty with sigmoid colon for the patients of vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome).Methods We did a retrospective review of a total of 150 women with Mayer-Rokitansky-Kuster-Hauser syndrome treated at Beijing Anzhen Hospital,Capital Medical University from March 2006 to August 2010.The patients were divided into the CO2 pneumoperitoneum laparoscopic group and the abdominal wall lift of gasless laparoscopic group.Sigmoid colon vaginoplasty approaches were performed in all of the patients.The surgical techniques,perioperative results,complications,anatomical and functional outcomes of vaginoplasty were recorded.Results All procedures were performed successfully.Significant differences in the operative time and intraoperative blood loss existed in the laparoscopic vaginoplasty group compared with the gasless laparoscopic vaginoplasty group.The patients who underwent sigmoid colon vaginoplasty had good cosmetic results without the problem of excessive mucus production.The postoperative complications were minimal.During a mean follow-up of 15.6 months,no stenosis or shrinkage was encountered.The subjective sexual satisfaction rate with the surgical outcomes in all patients was 83.3%.Conclusions Laparoscopic or gasless laparoscopic vaginoplasty with sigmoid colon are effective and feasible approaches for women with congenital vaginal agenesis.The procedures have satisfactory anatomical and functional results.

  15. Hernia of the bladder through the broad ligament with renal agenesis and ipsilateral ureter blind ending

    Science.gov (United States)

    El Madi, Aziz; Khattala, Khalid; Rami, Mohammed; Bouabdallah, Youssef

    2014-01-01

    Hernia through a defect of the broad ligament is extremely rare in children. These defects can result from a developmental defect or a spontaneous rupture of cystic formations remnants of mesonephric ducts or Müller. Genital anomalies associated with unilateral renal agenesis are more common in females. We report the case of a 13 months girl allowed for assessment of recurrent urinary tract infection; abdominal examination did not objectified palpable mass, the external genitalia were without abnormalities. Abdominal ultrasound revealed a left renal space is empty with a retrovesical cyst. Cystography was requested that objectified a large pelvic cystic mass retrovesical communicating with the bladder, there was also a left vesicoureteral reflux. Uro- MRI showed a cystic formation retrovesical communicating with the bladder, the right pelvic kidney; uterus is normal size for age. DMSA scintigraphy confirmed the absence of the left kidney with the right kidney that ensures 100% of total renal function. To surgical exploration we found a hernia of the bladder through the left broad ligament, the uterus was dislocated on the right side; left ovary was hypoplasic; the ipsilateral ureter was blind with renal agenesis, we performed by reduction of the bladder then closing the hernial orifice, dissection of the ureter with its ligation and section at the vesical stoma. The postoperative course was uneventful. Evolution is favorable. This observation illustrates a hernia of the bladder through the broad ligament associated with ovarian hypoplasia, renal agenesis and ipsilateral ureter blind ending; this association was not described to our knowledge in the literature. PMID:25422693

  16. Agenesis and not ectopia is common in North Indian children with thyroid dysgenesis

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    Devi Dayal

    2014-01-01

    Full Text Available Context: Ectopic Thyroid Gland (ETG is known to be the most common form of thyroid dysgenesis in children with permanent congenital hypothyroidism (CH. Recent reports indicate that agenesis or hypoplasia of thyroid gland may be commoner as compared to ETG in thyroid dysgenesis (TD. There is limited information available on the proportion of different variants of TD in Indian children. Aim: To characterize the different TD variants in a cohort of North Indian children with TD. Settings and Design: Endocrinology Unit of a large Multispecialty Pediatrics Center located in North India. Retrospective review of clinical records of children with CH due to TD diagnosed between April 2004 and March 2014. Results: Diagnoses of TD in 94 children (48 boys and 46 girls were based on combined scanning with high-resolution ultrasonography, and technetium-99m pertechnetate thyroid scintigraphy. Thyroid agenesis, ectopia and hypoplasia were diagnosed in 74 (78.7%, 14 (14.8% and 6 (6.4% patients respectively. The mean initial serum total T4 and thyroid stimulating hormone concentrations at diagnosis were 3.03 ± 2.88 μg/dL (range 0.01-8.9 and 284.52 ± 300.67 mIU/L (range 10.03-1159.0 respectively. Patients with ETG were older at the time of diagnosis as compared to patients with hypoplasia or ectopia. The mean duration of follow-up was 3.7 ± 2.85 years (range 3 months-10 years. Conclusions : Thyroid agenesis was the most common form of TD in our children with permanent CH. Hypoplasia and ectopia were uncommon. Female preponderance, noted in many previous reports, was not seen in our patients with TD.

  17. Complex malformations of the urogenital tract in a female dog: Gartner duct cyst, ipsilateral renal agenesis, and ipsilateral hydrometra.

    Science.gov (United States)

    Fujita, Atsushi; Tsuboi, Masaya; Uchida, Kazuyuki; Nishimura, Ryohei

    2016-05-01

    A 10-month-old female toy poodle was referred to the University of Tokyo Veterinary Medical Center with a urogenital anomaly found during sterilization. An exploratory laparotomy revealed a cyst adhering to the cervix and a unilateral renal agenesis. Histopathology and immunohistochemical analysis of the cyst was consistent with remnants of the Wolffian duct or a Gartner duct cyst. This is a rare case of a canine Gartner duct cyst with renal agenesis and uterine anomaly. We discuss the similarity of this case to that of humans and introduce a classification in the literature for these complex urogenital malformations for further clinical research into the precise diagnosis and appropriate surgical planning.

  18. Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency.

    Science.gov (United States)

    Gerard-Blanluet, Marion; Port-Lis, Marylin; Baumann, Clarisse; Perrin-Sabourin, Laurence; Ebrad, Patrick; Audry, Georges; Delezoide, Anne-Lise; Verloes, Alain

    2010-11-01

    Prune-belly sequence (PBS) usually results from early urethral obstruction. In rare cases, PBS seems to be due to a faulty primary development of the parietal mesenchyme leading to underdevelopment of the abdominal wall musculature, and disorganization of the smooth muscles in the urinary tract. We report on two patients with segmental, unilateral wall musculature deficiency associated with homolateral agenesis of ribs. One patient also had hemivertebrae and the other one ipsilateral diaphragmatic eventration and aplasia cutis. This combination of anomalies may represent a localized deficiency in the development of somitic mesoderm mesenchyme during early embryogenesis.

  19. Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivary dysplasia.

    Science.gov (United States)

    Saito, Yoshiaki; Hayashi, Masaharu; Miyazono, Yayoi; Shimogama, Tatsuro; Ohno, Kousaku

    2006-05-01

    We report the autopsy case of a boy with arthrogryposis multiplex congenita, associated with callosal agenesis and dentato-olivary dysplasia. The patient manifested with dysmorphic facial features and suffered from intractable epilepsy during the neonatal period. These sets of complications suggest that a common molecular mechanism may be involved in the development of corpus callosum and the folding of the dentate and inferior olivary nuclei. Deep brain structures, including the brainstem and the cerebellum, may be involved in the pathophysiology of symptomatic generalized epilepsy. The differential diagnoses for the clinical and pathological characteristics of this patient are discussed.

  20. Single, mediastinal, unilobar lung - a rare form of subtotal pulmonary agenesis

    Energy Technology Data Exchange (ETDEWEB)

    Markowitz, R.I.; Rosenfield, N.S.; Frederick, W.; Duray, P.H.; Seashore, J.H.

    1987-05-01

    We describe a case of a full-term infant with severe respiratory failure and pulmonary insufficiency caused by an anomaly consisting of a single, unilobar lung arising from the trachea and situated in the middle mediastinum. Plain film, echocardiogram, and surgical aspects will be described and correlated with the post mortem findings and embryologic considerations. We were unable to find a similar case reported in the literature and conclude that this rare lesion represent an intermediate form between total and unilateral pulmonary agenesis.

  1. Congenital right pulmonary artery agenesis with atrial septal defect and pulmonary hypertension.

    Science.gov (United States)

    Orun, Utku Arman; Yilmaz, Osman; Bilici, Meki; Karademir, Selmin; Uner, Cigdem; Senocak, Filiz; Dogan, Vehbi

    2012-01-01

    Unilateral pulmonary artery agenesis is a rare congenital anomaly caused by a backward displacement of the conical artery of the truncus arteriosus. It is commonly associated with additional cardiovascular abnormalities. A 7-year-old girl was admitted to our clinic with the complaint of shortness of breath upon exertion. Chest radiography revealed a hypoplastic right lung. Absence of the right pulmonary artery with atrial septal defect and pulmonary hypertension was demonstrated by echocardiography, computed tomography, and cardiac catheterization. Bosentan is effectively used to treat pulmonary arterial hypertension.

  2. Three-dimensional colour Doppler of ductus venous agenesis in the first trimester

    Directory of Open Access Journals (Sweden)

    Divya Singh

    2016-11-01

    Full Text Available Ductus venosus (DV has a pivotal role in the fetal circulation. It serves as a conduit connecting the fetal umbilical and portal venous system with the inferior vena cava (IVC. The absence of DV is an uncommon anomaly. In case of agenesis of DV, the umbilical vein joins the fetal systemic venous circulation via the intra-hepatic or extra-hepatic route. We report a case of absent DV with associated anomaly diagnosed in the first trimester using three-dimensional (3D colour Doppler.

  3. MDCT and 3D evaluation of type 2 hypoplastic pulmonary artery sling associated with right lung agenesis, hypoplastic aortic arch, and long segment tracheal stenosis.

    Science.gov (United States)

    Lee, Edward Y

    2007-11-01

    The early diagnosis and complete anatomic evaluation of pulmonary artery sling, a congenital vascular anomaly in which left pulmonary artery arises from the right pulmonary artery, is paramount for proper patient management, because patients with this disorder frequently have other congenital anomalies resulting in high morbidity and mortality. Until recently, pulmonary artery sling in the neonate has been established with standard radiologic imaging studies such as plain radiographs, barium swallow studies, fluoroscopy-guided airway studies, and echocardiograms. However, with the development and widespread availability of multidetector computed tomography, pulmonary artery sling is increasingly evaluated with this newer technology. This case report presents a rare incidence of type 2 hypoplastic pulmonary artery sling in a neonate associated with right lung agenesis, hypoplastic aortic arch, and long segment tracheal stenosis. Multidetector computed tomography combined with 3-dimensional evaluation was particularly helpful in making a correct diagnosis of the complicated anatomic anomalies found in this case.

  4. Coincidence of congenital left-sided diaphragmatic hernia and ductus venosus agenesis: Relation between altered hemodynamic flow and lung-to-head-ratio?

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    T. Klein

    2015-06-01

    Full Text Available Left-sided diaphragmatic hernia (CDH as well as ductus venosus agenesis (ADV are rare complex congenital malformations. We present a case of coincidence of these malformations and an abnormally high lung-head-ratio (LHR. The left-sided liver-up CDH and the ADV were diagnosed in prenatal ultrasound examination. In CDH cases lung volume is decreased due to the herniation of abdominal organs into the thorax. With 1.4 the LHR of our patient exceeded the normal ratio in liver-up CDH cases considerably. One explanation for this unusually high LHR might be an altered blood flow due to the coinciding ADV. In ADV cases less blood bypasses the lung through the foramen ovale. Consecutively pulmonary circulation is improved which may constitute as an advantage in CDH cases. Diagnosis, prognostic factors, physiology, and therapy strategy are discussed.

  5. Agenesis of the corpus callosum: classifying functional manifestations with the ICF-CY.

    Science.gov (United States)

    Kovac, Megan L; Simeonsson, Rune J

    2014-01-01

    Agenesis of the corpus callosum (ACC) is a congenital condition in which the corpus callosum fails to develop fully. In the literature, ACC has been broadly conceptualized and inconsistently described. This article demonstrates how the universal language of the International Classification of Functioning, Disability and Health-Children and Youth can increase the specificity with which researchers and clinicians describe the variable manifestations of ACC. The database for this article was based on a review of 83 studies on developmental and neuropsychological manifestations of congenital ACC in children and adolescents. First, the extent to which the findings on ACC could be documented using the taxonomic codes in the ICF-CY was examined. Next, the findings from each study were mapped onto the ICF-CY to summarize the distribution of clinical features reported in the literature. There was a high degree of correspondence between the reported findings and the taxonomic codes of the ICF-CY. The distribution of clinical features was discussed. This taxonomic application advances the ICF-CY as a common language for researchers and clinicians who work with children who have ACC. Implications for Rehabilitation Agenesis of the corpus callosum (ACC) is a condition that has been broadly conceptualized and inconsistently described in research and practice. The variable clinical manifestations of children with ACC can be most effectively described using the ICF-CY. The application of the ICF-CY to conditions with highly variable clinical manifestations, like ACC, positively impacts research and practice.

  6. Unilateral pulmonary agenesis: a report of four cases, two diagnosed antenatally and literature review.

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    Kayemba-Kay's, S; Couvrat-Carcauzon, V; Goua, V; Podevin, G; Marteau, M; Sapin, E; Levard, G

    2014-03-01

    Pulmonary agenesis is a rare congenital malformation of lung development defined as complete absence of lung tissues, bronchi, and pulmonary vessels; it may be uni- or bilateral. The right-sided form carries the poorest prognosis due to severity of co-existent anomalies. Its diagnostic circumstances are variables: first reported cases were diagnosed at autopsy, but early postnatal as well as fortuitous discovery have been reported. In recent years, progress in obstetrical imaging has made antenatal diagnosis possible so that fetal ultrasound and MRI allow early diagnosis and refinement by permitting the elimination of differential diagnoses (diaphragmatic hernia, cystic adenomatoid malformation of the lung, giant lobar emphysema, and situs inversus). This anomaly is compatible with normal life provided co-existent malformations are thoroughly investigated and managed in a multidisciplinary setting. We report four cases of lung agenesis two of which were diagnosed antenatally at 23rd and 30th weeks of gestation respectively. Our aim is to describe the circumstances having led to diagnosis and report both follow-up and outcome of our patients.

  7. Assessment of sexual functioning, mental health, and life goals in women with vaginal agenesis.

    Science.gov (United States)

    Morgan, Elizabeth M; Quint, Elisabeth H

    2006-10-01

    Vaginal agenesis is a congenital disorder defined by the incomplete formation of the vagina and other reproductive organs, often including the cervix, uterus, and fallopian tubes. For the patient, this frequently means infertility and an underdeveloped vagina with the subsequent difficulty to have vaginal intercourse. The patient with vaginal agenesis and her family then encounter a variety of psychological concerns that must be addressed during diagnosis, including weighing treatment options, managing interventions, and coping with long-term issues following diagnosis and treatment, such as partnership concerns and infertility. In this study, seven patients between the ages of 18 and 34 completed questionnaires assessing demographic information, sexual functioning, mental health, self-esteem, and life goals. Sexual functioning results were highly variable. Participants reported significant emotional reactions at diagnosis as well as anxiety about the disorder, specifically its role in relationships. However, overall, the group showed average levels of mental health and self-esteem. Participants also showed positive coping techniques through conceptualization of life goals.

  8. Prevalência de agenesia do osso sesamóide da articulação metacarpofalangeana, em brasileiros adultos Agenesis prevalence of the adductor sesamoid of the thumb in Brazilians adults

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    Renata Rodrigues de Almeida-Pedrin

    2008-08-01

    Full Text Available OBJETIVO: diante da importância do sesamóide no emprego de métodos simplificados para a determinação da maturidade esquelética, julgamos necessário um estudo, em brasileiros adultos, para verificar a porcentagem de presença ou ausência deste ossículo. METODOLOGIA: a amostra constitui-se de 500 indivíduos brasileiros, com idade média de 22,5 (18-33 anos, de ambos os gêneros. A presença ou ausência do osso sesamóide foi verificada mediante a interpretação de radiografias periapicais, tomadas da articulação metacarpofalangena dos dois polegares de cada indivíduo da pesquisa. RESULTADOS E CONCLUSÃO: os resultados demonstraram que o osso sesamóide da articulação metacarpofalangeana esteve presente em todos os indivíduos (100% da amostra, concluindo, desta forma, que não houve agenesia deste osso nesta população avaliada.AIM: the purpose of this study was to verify the percentage of agenesis of sesamoid bone in a Brazilian adult population. METHODS: the sample consisted of 329 females and 171 males, with mean age of 22.5 (range from 18 to 33 years. The presence or agenesis of sesamoid bone was evaluated through periapical radiographs taken from the metacarpophalangeal joint of the thumb (left and right of each subject. RESULTS AND CONCLUSION: The results evidenced that the sesamoid bone was present in 100% of the sample, showing that was not found agenesis in these population.

  9. A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay.

    Science.gov (United States)

    Suzuki, Shigeru; Nakao, Atsushi; Sarhat, Ashoor R; Furuya, Akiko; Matsuo, Kumihiro; Tanahashi, Yusuke; Kajino, Hiroki; Azuma, Hiroshi

    2014-02-01

    Recently, GATA6 heterozygous loss-of-function mutations were reported to cause pancreatic agenesis and congenital heart defects (PACHD [OMIM:600001]). However, the molecular mechanisms resulting from premature termination codons have not been examined in this disorder. The objective of this study was to perform a genetic analysis of a patient with PACHD. A female patient presented with ventricular septal defect, patent ductus arteriosus, and congenital diaphragmatic hernia at birth. Permanent neonatal diabetes mellitus and pancreatic exocrine deficiency due to pancreatic agenesis was diagnosed at 1 month of age. PCR-direct sequencing of GATA6 revealed that the patient is heterozygous for a novel de novo nonsense mutation of c.1477C>T, p. Arg493X in exon 5. RT-PCR direct sequencing of the RT-PCR products of total RNA from peripheral blood of the patient for the region encompassing exons 4-6 revealed only the wild-type allele. This finding provides the evidence for the occurrence of nonsense-mediated mRNA decay (NMD) in the p.Arg493X mutation. Quantitative RT-PCR analysis revealed that the expression of GATA6 transcript in the patient was less than half compared with normal control samples. This is the first evidence that GATA6 haploinsufficiency is caused by NMD in vivo, and we conclude that GATA6 haploinsufficiency causes not only PACHD but may affect other organs derived from the endoderm. Further screenings of GATA6 mutations in patients with various forms of diabetes and/or congenital heart disease with other visceral malformation may reveal the impact of GATA6 mutations on diabetes and congenital malformation.

  10. Tooth agenesis and craniofacial morphology in pre-orthodontic children with and without morphological deviations in the upper cervical spine

    DEFF Research Database (Denmark)

    Jasemi, Ashkan; Sonnesen, Liselotte

    2016-01-01

    in the two groups together. METHODS: One hundred and twenty-six pre-orthodontic children with tooth agenesis were divided into two groups with (19 children, mean age 11.9) and without (107 children, mean age 11.4) upper spine morphological deviations. Visual assessment of upper spine morphology...

  11. Radiographic assessment of agenesis, impaction, and pararadicular radiolucencies in relation with third molar in Nashik City of Maharashtra

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    Bhushan Sukdeo Ahire

    2016-01-01

    Full Text Available Introduction: The third molar develops entirely after birth and also it is the last tooth to erupt in all ethnic groups despite racial variations in the eruption sequence. Tooth development with effects on tooth size, shape, position, and total absence is affected due to environmental factors, systemic diseases, genetic polymorphisms, and teratogens. Aims and Objectives: The aim of this study was to assess the prevalence of agenesis, impaction, and pararadicular radiolucencies in relation with third molars. Materials and Methods: One hundred digital orthopantomograph (OPG scans of patients of age ranging from 18 to 25 years were selected randomly from the digital OPG database of the Department of Oral Medicine and Radiology, and then assessment and analysis were carried out. Results: Overall agenesis rate was about 14.5%. Bilateral agenesis of maxillary and mandibular third molars was about 14% and 13%, respectively. Overall impaction rate was about 21.92%. Mesioangular impaction rate was about 57.33% whereas distoangular impaction rate was about 26.66%. Prevalence of pararadicular radiolucencies was only about 0.8% with mandibular predilection. Conclusion: As the agenesis of the third molars is increasing, they can be considered as vestigial. Prevalence of impaction of the third molars is increasing. Pararadicular radiolucencies are mostly seen with mandibular third molar.

  12. Herlyn-Werner-Wunderlich Syndrome with Unilateral Hemivaginal Obstruction, Ipsilateral Renal Agenesis, and Contralateral Renal Thin GBM Disease: A Case Report with Radiological Follow Up

    Energy Technology Data Exchange (ETDEWEB)

    Park, Noh Hyuck; Park, Hee Jin; Park, Chan Sup [Myongji Hospital, Kwandong University, Koyang (Korea, Republic of); Park, Sung Il [Bucheon Hospital, Soonchunhyang University, Bucheon (Korea, Republic of)

    2010-08-15

    Herlyn-Werner-Wunderlich syndrome is a rare Mullerian ductal anomaly that is characterized by the presence of a hemivaginal septum, a didelphic uterus and ipsilateral renal agenesis. It is generally difficult to diagnose the uterine malformation before menarche owing to its small size. Therefore, a follow-up study is very important for confirming the uterine malformation in girls with renal agenesis. We report a patient with renal agenesis and microscopic hematuria, who showed symptoms before menarche. A follow-up study eventually revealed uterine didelphys with a hemivaginal obstruction. A biopsy proved that the microscopic hematuria was caused by thin glomerular basement membrane disease of the contralateral kidney

  13. Analysis of the golden proportion and width/height ratios of maxillary anterior dentition in patients with lateral incisor agenesis.

    Science.gov (United States)

    Pini, Núbia Pavesi; de-Marchi, Luciana Manzotti; Gribel, Bruno Frazão; Ubaldini, Adriana Lemos Mori; Pascotto, Renata Corrêa

    2012-12-01

      The purpose of this study was to assess the presence of the golden proportion (GP) in the facial view tooth-to-tooth width proportion of the six maxillary anterior teeth and to evaluate the width/height (W/H) ratios of the incisors of patients with maxillary lateral incisor (LI) agenesis treated either with implants or orthodontically (by moving canines into the position of the laterals, recontouring them, and placing composite restorations over the repositioned teeth).   Forty-eight patients with LI agenesis were divided into four experimental groups: unilateral recontouring group (N = 10), bilateral recontouring group (BRG, N = 18), unilateral implant group (UIG, N = 10), bilateral implant group (N = 10), and a control group (CG, N = 25) of patients without agenesis. GP ratios were determined on patients' dental casts placed over Levin's grids, whereas W/H ratios were measured directly on the casts and a millimeter ruler to determine these distances. Statistical analysis was performed with Shapiro-Wilk, Kruskal-Wallis, Mann-Whitney, Friedman, and Wilcoxon tests (p mean W/H ratios of the laterals ranged between 0.75 and 0.90.   Although the GP may be a useful diagnostic guide, it was not observed in the majority of esthetic outcomes of patients treated with maxillary LI agenesis in this study. The assessment of the golden proportion and width/height ratio of upper anterior teeth in patients with upper lateral incisor agenesis treated with either implants or tooth re-contouring may assist dentists and patients in deciding the best treatment option based on the peculiarities of each case. © 2012 Wiley Periodicals, Inc.

  14. Agenesis of the corrugator supercilii: a benign condition.

    Science.gov (United States)

    Alfonso, Israel; Miranda, Luis Felipe; Reeves-Garcia, Jessica; Checa, Rosario Mateos; Guevara, Carlos

    2010-03-01

    We report 2 neonates with frontonasal masses. The frontonasal masses were only present while the neonates were crying. The rest of the general examination and the neurological examination of the neonates were normal. The first patient had an extensive neuroimaging evaluation that included skull radiograph, computed tomography (CT) and magnetic resonance imaging (MRI) of the brain, and ultrasound of the frontonasal mass. The second patient was evaluated with ultrasound of the frontonasal mass. The mother of the second patient had no frontonasal creases and was unable to frown. In both patients, the ultrasonographic studies revealed nonspecific soft tissue thickening in the region of the glabella only while crying. The ultrasonographic findings and the similarity between the mother's findings and those of adult patients receiving botulinum toxin injection to the corrugator supercilii muscle point to the absence of this muscle as the cause of the frontonasal mass in these patients.

  15. Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis.

    Directory of Open Access Journals (Sweden)

    Seishi Yamaguchi

    Full Text Available Since MSX1 and PAX9 are linked to the pathogenesis of nonsyndromic tooth agenesis, we performed detailed mutational analysis of these two genes sampled from Japanese patients. We identified two novel MSX1 variants with an amino acid substitution within the homeodomain; Thr174Ile (T174I from a sporadic hypodontia case and Leu205Arg (L205R from a familial oligodontia case. Both the Thr174 and Leu205 residues in the MSX1 homeodomain are highly conserved among different species. To define possible roles of mutations at these amino acids in the pathogenesis of nonsyndromic tooth agenesis, we performed several functional analyses. It has been demonstrated that MSX1 plays a pivotal role in hard tissue development as a suppressor for mesenchymal cell differentiation. To evaluate the suppression activity of the variants in mesenchymal cells, we used the myoD-promoter, which is one of convenient reporter assay system for MSX1. Although the gene products of these MSX1 variants are stable and capable of normal nuclear localization, they do not suppress myoD-promoter activity in differentiated C2C12 cells. To clarify the molecular mechanisms underlying our results, we performed further analyses including electrophoretic mobility shift assays, and co-immunoprecipitation assays to survey the molecular interactions between the mutant MSX1 proteins and the oligonucleotide DNA with MSX1 consensus binding motif or EZH2 methyltransferase. Since EZH2 is reported to interact with MSX1 and regulate MSX1 mediated gene suppression, we hypothesized that the T174I and L205R substitutions would impair this interaction. We conclude from the results of our experiments that the DNA binding ability of MSX1 is abolished by these two amino acid substitutions. This illustrates a causative role of the T174I and L205R MSX1 homeodomain mutations in tooth agenesis, and suggests that they may influence cell proliferation and differentiation resulting in lesser tooth germ formation in

  16. A case of Klippel-Feil syndrome with renal agenesis

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    Mehmet Karakoç

    2010-05-01

    Full Text Available Klippel-Feil syndrome (KFS is is a rare syndrome that characterized by fusion of at least two congenital vertebrae in the cervical region. The most common characteristics of KFS are short neck, low nuchal hair line and restricted joint mobility of the cervical region.Addititonal features are scoliosis, sipina bifida, cervical rib, Sprengel deformity and facial asymmetry, and renal and cardiac anomalies. In this report a 10 years old girl was admitted with complaints of short stature and abnormal neck curvature. Physical examination of the patient revealed short neck, low nuchal hair line, and Sprengel’s deformity, height hard palate, facial asymmetry and torticollis. Cervical paravertebral muscle spasm was found on the left as (+ / right (+ +. Muscle tone, muscle strength, reflexes and sensory examination were found to be normal. Radiological examination of the C4-5 and C6-7 cervical region revealed the loss of inteverebral disc spaces and block vertebra. Also there was hemivertebra anomaly and aplasia of odontoid process. Abdominal and pelvic ultrasound examination revelaed absence of right kidney. Echocardiographical examination gave no abnormality. The case was presented in order to draw attention to KFS with renal agenesia in the light of current literature.

  17. Mitral valve surgery in a patient with dextrocardia and 180° counter-clockwise rotated heart due to congenital agenesis of the right lung.

    Science.gov (United States)

    Atsumi, Yosuke; Tokunaga, Shigehiko; Yasuda, Shota; Fushimi, Kenichi; Masuda, Munetaka

    2013-11-01

    We report a case of severe mitral regurgitation (MR) with dextrocardia and 180° counterclockwise rotated situs solitus heart. We describe the technique for mitral valve surgery in a patient with dextrocardia and agenesis of the right lung.

  18. Prenatal Diagnosis of Cantrell's Pentalogy Associated with Agenesis of Left Limb in a Twin Pregnancy

    Science.gov (United States)

    Cakiroglu, Yigit; Doger, Emek; Babaoglu, Kadir; Caliskan, Eray; Yucesoy, Gulseren

    2014-01-01

    Pentalogy of Cantrell is a rare malformation described in the literature. We report a case of pentalogy of Cantrell associated with left limb deficiency in a twin pregnancy. The fetus with multiple anomalies revealed kyphosis, ectopia cordis, and a large defect with protruding liver and bowel loops at 12 weeks and 3 days of gestational age on ultrasound scan. The other fetus was ultrasonographically normal. We diagnosed a case of pentalogy of Cantrell in a twin pregnancy after exclusion of limb body wall complex, body stalk anomaly, and amniotic band syndrome and after delivery of the fetuses. Macroscopic examinations were ectopia cordis, extrusion of the abdominal organs without membranes surrounding, and agenesis of the left limb. PMID:24782934

  19. Management of a Patient With Tetralogy of Fallot, Congenital Diaphragmatic Hernia, and Complete Left Lung Agenesis.

    Science.gov (United States)

    Labovsky, Kristen; Hoffman, George; Scott, John

    2016-07-01

    We describe the rare case of an infant with congenital diaphragmatic hernia, unilateral lung agenesis, and unpalliated single-ventricle physiology. Infants with congenital diaphragmatic hernia and parallel circulation are at risk for maldistribution of systemic and pulmonary blood flow. Optimal perioperative management should include an assessment of the ratio of pulmonary to systemic blood flow (Qp:Qs). Traditionally, arterial and systemic venous oxygen (SvO2) saturations are needed to calculate Qp:Qs. However, in this case, SvO2 measurement was not feasible. On the basis of a previously described relationship, we used 2-site near-infrared spectroscopy to calculate a near-infrared spectroscopy-derived SvO2, which was then used to estimate Qp:Qs and guide goal-directed interventions.

  20. Implant-Prosthetic Rehabilitation in Bilateral Agenesis of Maxillary Lateral Incisors with a Mini Split Crest

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    M. M. Figliuzzi

    2016-01-01

    Full Text Available The reported clinical case describes the surgical procedure of ridge augmentation by using a “split crest” technique with a partial thickness flap and a subsequent implant-prosthetic rehabilitation aimed at treating a bilateral agenesis of the upper lateral incisors. In such cases with vestibule-palatal and mesial-distal scarce bone thicknesses associated with the need of a proper functional and aesthetic rehabilitation, the split crest technique is particularly suitable. In the case we reported, because of the poor bone thicknesses, we performed a minimally invasive split crest which allowed a correct insertion of the fixtures. This technique allowed us to achieve an optimal functional and aesthetic rehabilitation; moreover, we obtained a good emergency profile, ensuring the vitality of the close teeth and ensuring a good primary stability and the following osseointegration of dental implants.

  1. Neurophysiological investigation of congenital mirror movements in a patient with agenesis of the corpus callosum.

    Science.gov (United States)

    Lepage, Jean-François; Beaulé, Vincent; Srour, Myriam; Rouleau, Guy; Pascual-Leone, Alvaro; Lassonde, Maryse; Théoret, Hugo

    2012-04-01

    We describe a patient with complete agenesis of the corpus callosum and congenital mirror movements in which primary motor cortex (M1) excitability of both hemispheres was assessed with transcranial magnetic stimulation. Voluntary contraction of the index finger was associated with bilateral electromyographic activity in the first dorsal interosseus muscle. Motor-evoked potentials of identical latencies were produced bilaterally after unilateral M1 stimulation. Measures of intracortical inhibition and facilitation were within normal limits bilaterally although a shorter contralateral silent period was found for both hemispheres. Taken together, the current data suggest a pattern of M1 excitability very similar to that found in patients with congenital mirror movements and no other motor abnormality. Copyright © 2012 Elsevier Inc. All rights reserved.

  2. Associação de agenesia sacrococcígea e atresia anal em gato sem raça definida Sacrococcygeal agenesis association and anal atresia in mixed breed cats

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    Felipe Purcell de Araújo

    2009-09-01

    Full Text Available O presente trabalho teve como objetivo descrever o caso de um felino, que desde o nascimento apresentou atresia anal, ausência de cauda e malformação dos membros pélvicos. Ao exame radiográfico, pôde-se observar presença de agenesia da sétima vértebra lombar, sacro e vértebras coccígeas, espinha bífida, meningocele, hiperflexão dos joelhos e desvio valgo dos tarsos, diagnosticando-se agenesia sacrococcígea associada à atresia anal.This paper has the objective to report a case of a cat that since birth had anal atresia, absence of tail and malformation of the pelvic member. The radiographic examination revealed agenesis of the seventh lumbar vertebra, sacral and coccygeal vertebrae, spina bifida, meningocele, hyperflexion of the knees and tarsal valgus deviation, diagnosing sacrococcygeal agenesis associated with anal atresia.

  3. [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].

    Science.gov (United States)

    Zhang, Jun-tao; Zhou, Lian-hong; Zha, Yun-fei; Liu, Tian; Tian, Ming-xing; Yuan, Jing; Xing, Yi-qiao

    2013-07-01

    To identify TUBB3 gene mutations in a Chinese family with congenital fibrosis of the extraocular muscle associated with corpus callosum agenesis. We have found a family with CFEOM associated with corpus callosum agenesis, including 4 affected individuals in three generations of 11 familial members. 4 affected individuals were sequenced by direct TUBB3 sequencing, 4 unaffected individuals in the family and 100 cases of unrelated normal person as a control. This family is in line with Mendelian autosomal dominant inheritance. Clinical manifestations belongs to CFEOM3. All affected individuals were detected with TUBB3 c.1249G > A mutation, the mutation is in exon 4, resulting in wild-type gene encoding the Aspartic acid ( Asp or D ) replaced .by Asparagine (Asn or N ). Our study supports that TUBB3 gene mutation c.1249G > A (p. Asp417Asn), is the underlying molecular pathogenesis of this family with CFEOM3.

  4. A Rare Case of Bilateral Agenesis of Central Lower Incisors Associated With Upper Impacted Canine- A Case Report.

    Science.gov (United States)

    Porumb, Anca; Ignat Romanul, Ioana; Dalai, Camelia; Ciavoi, Gabiela; Tig, Ioan Andrei

    2016-03-01

    This case of a female patient, 14 yr old with association of the two anomalies, which we came across with in 2014, is rarely met in the specialty practice. The impacted canines are part of the group of dental anomalies of position, while the agenesis is part of the group of dental number anomalies. The orthodontic treatment in the two arches has to be differentiated, the therapeutic objectives being, also different in the two arches.

  5. Bilateral subcortical heterotopia with partial callosal agenesis in a mouse mutant.

    Science.gov (United States)

    Rosen, G D; Azoulay, N G; Griffin, E G; Newbury, A; Koganti, L; Fujisaki, N; Takahashi, E; Grant, P E; Truong, D T; Fitch, R H; Lu, L; Williams, R W

    2013-04-01

    Cognition and behavior depend on the precise placement and interconnection of complex ensembles of neurons in cerebral cortex. Mutations that disrupt migration of immature neurons from the ventricular zone to the cortical plate have provided major insight into mechanisms of brain development and disease. We have discovered a new and highly penetrant spontaneous mutation that leads to large nodular bilateral subcortical heterotopias with partial callosal agenesis. The mutant phenotype was first detected in a colony of fully inbred BXD29 mice already known to harbor a mutation in Tlr4. Neurons confined to the heterotopias are mainly born in midgestation to late gestation and would normally have migrated into layers 2-4 of overlying neocortex. Callosal cross-sectional area and fiber number are reduced up to 50% compared with coisogenic wildtype BXD29 substrain controls. Mutants have a pronounced and highly selective defect in rapid auditory processing. The segregation pattern of the mutant phenotype is most consistent with a two-locus autosomal recessive model, and selective genotyping definitively rules out the Tlr4 mutation as a cause. The discovery of a novel mutation with strong pleiotropic anatomical and behavioral effects provides an important new resource for dissecting molecular mechanisms and functional consequences of errors of neuronal migration.

  6. Is Disturbed Transfer of Learning in Callosal Agenesis due to a Disconnection Syndrome?

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    T. Imamura

    1994-01-01

    Full Text Available Disturbed intermanual transfer of tactile learning in callosal agenesis has been interpreted as a sign of disconnection syndrome. We observed this sign in one of four acallosal patients with a conventional form-board task, and tried to elucidate the nature of the deficit. The form-board performance of the patient with disturbed transfer of learning totally depended on motor skill, while the other acallosals and normal controls executed the task based on spatial and somesthetic information. All acallosals and normals, however, failed to show transfer of learning with another tactile task which needed motor skill but not spatial-somesthetic information. These findings suggest that the task-performing strategies in form-board learning change the state of interhemispheric transfer. Unimanual learning effect is transferred if spatial-somesthetic information is acquired in the process of learning, but is not transferred if motor skill is the exclusive content of learning. We conclude that disturbed “transfer” of learning in some acallosals is not a true disconnection sign. It should be attributed to a lack of appropriate strategy, as a result of ineffective problem solving in tactile tasks.

  7. Agenesis of the Corpus Callosum Due to Defective Glial Wedge Formation in Lhx2 Mutant Mice.

    Science.gov (United States)

    Chinn, Gregory A; Hirokawa, Karla E; Chuang, Tony M; Urbina, Cecilia; Patel, Fenil; Fong, Jeanette; Funatsu, Nobuo; Monuki, Edwin S

    2015-09-01

    Establishment of the corpus callosum involves coordination between callosal projection neurons and multiple midline structures, including the glial wedge (GW) rostrally and hippocampal commissure caudally. GW defects have been associated with agenesis of the corpus callosum (ACC). Here we show that conditional Lhx2 inactivation in cortical radial glia using Emx1-Cre or Nestin-Cre drivers results in ACC. The ACC phenotype was characterized by aberrant ventrally projecting callosal axons rather than Probst bundles, and was 100% penetrant on 2 different mouse strain backgrounds. Lhx2 inactivation in postmitotic cortical neurons using Nex-Cre mice did not result in ACC, suggesting that the mutant phenotype was not autonomous to the callosal projection neurons. Instead, ACC was associated with an absent hippocampal commissure and a markedly reduced to absent GW. Expression studies demonstrated strong Lhx2 expression in the normal GW and in its radial glial progenitors, with absence of Lhx2 resulting in normal Emx1 and Sox2 expression, but premature exit from the cell cycle based on EdU-Ki67 double labeling. These studies define essential roles for Lhx2 in GW, hippocampal commissure, and corpus callosum formation, and suggest that defects in radial GW progenitors can give rise to ACC.

  8. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

    Science.gov (United States)

    Osbun, Nathan; Li, Jiang; O'Driscoll, Mary C; Strominger, Zoe; Wakahiro, Mari; Rider, Eric; Bukshpun, Polina; Boland, Elena; Spurrell, Cailyn H; Schackwitz, Wendy; Pennacchio, Len A; Dobyns, William B; Black, Graeme C M; Sherr, Elliott H

    2011-08-01

    Agenesis of the corpus callosum (AgCC) is a congenital brain malformation that occurs in approximately 1:1,000-1:6,000 births. Several syndromes associated with AgCC have been traced to single gene mutations; however, the majority of AgCC causes remain unidentified. We investigated a mother and two children who all shared complete AgCC and a chromosomal deletion at 1q42. We fine mapped this deletion and show that it includes Disrupted-in-Schizophrenia 1 (DISC1), a gene implicated in schizophrenia and other psychiatric disorders. Furthermore, we report a de novo chromosomal deletion at 1q42.13 to q44, which includes DISC1, in another individual with AgCC. We resequenced DISC1 in a cohort of 144 well-characterized AgCC individuals and identified 20 sequence changes, of which 4 are rare potentially pathogenic variants. Two of these variants were undetected in 768 control chromosomes. One of these is a splice site mutation at the 5' boundary of exon 11 that dramatically reduces full-length mRNA expression of DISC1, but not of shorter forms. We investigated the developmental expression of mouse DISC1 and find that it is highly expressed in the embryonic corpus callosum at a critical time for callosal formation. Taken together our results suggest a significant role for DISC1 in corpus callosum development.

  9. Dental Age and Tooth Development in Orthodontic Patients with Agenesis of Permanent Teeth

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    Jozo Badrov

    2017-01-01

    Full Text Available Objective. To compare the development of permanent teeth in a group of children with the congenitally missing permanent teeth (CMPT and corresponding nonaffected group. Methods. The formation stages of all developing permanent teeth were determined on 345 panoramic radiographs (OPTs by the method of Haavikko (1970, and dental age was calculated. The paired samples t-test was used to compare the differences between dental age (DA and chronological age (CA in those with CMPT and those not affected. Spearman test was used to evaluate the correlation between DA-CA and the number of missing teeth. The Wilcoxon signed rank test was used to compare the development of the teeth adjacent to the place of the agenesis with matched pair in corresponding nonaffected group. Results. Dental age was significantly delayed in CMPT children compared to the nonaffected group (p<0.001. The mean differences were −0.57 ± 1.20 years and −0.61 ± 1.23 years in males and females, without difference between sexes (p=0.763. The number of missing teeth affected the delay only in females (p=0.024. Only mesial teeth in females were significantly delayed in development when compared to the nonaffected group (p=0.007. Conclusion. Our findings show that the development of the permanent teeth is delayed when compared to the nonaffected group of the same sex and age.

  10. Dental Age and Tooth Development in Orthodontic Patients with Agenesis of Permanent Teeth.

    Science.gov (United States)

    Badrov, Jozo; Lauc, Tomislav; Nakaš, Enita; Galić, Ivan

    2017-01-01

    Objective. To compare the development of permanent teeth in a group of children with the congenitally missing permanent teeth (CMPT) and corresponding nonaffected group. Methods. The formation stages of all developing permanent teeth were determined on 345 panoramic radiographs (OPTs) by the method of Haavikko (1970), and dental age was calculated. The paired samples t-test was used to compare the differences between dental age (DA) and chronological age (CA) in those with CMPT and those not affected. Spearman test was used to evaluate the correlation between DA-CA and the number of missing teeth. The Wilcoxon signed rank test was used to compare the development of the teeth adjacent to the place of the agenesis with matched pair in corresponding nonaffected group. Results. Dental age was significantly delayed in CMPT children compared to the nonaffected group (p development when compared to the nonaffected group (p = 0.007). Conclusion. Our findings show that the development of the permanent teeth is delayed when compared to the nonaffected group of the same sex and age.

  11. Renal tubular dysgenesis with hypocalvaria and ileocecal valve agenesis: an autopsy report

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    Ariel Barreto Nogueira

    2012-12-01

    Full Text Available Renal tubular dysgenesis (RTD is a rare, lethal, autosomal recessive disorder characterized by non-differentiation of the renal proximal convoluted tubules, resulting in oligohydramnios. It is usually diagnosed in the second trimester of pregnancy, following the oligohydramnios sequence, pulmonary hypoplasia and hypocalvaria. The prognosis is poor, and death usually occurs in utero or within the first few days of life. The pathogenesis of RTD is associated with the perinatal use of drugs, such as angiotensin- converting enzyme inhibitors, angiotensin II receptor antagonists, and anti- inflammatory drugs, as well as with fetal transfusion syndrome, genetic mutations in the pathway of the renin-angiotensin system pathway, cocaine snorting, or other pathological mechanisms that reduce renal blood flow. Here, we report the autopsy of a neonate born to consanguineous parents at 38 weeks of gestation, with RTD, decreased amniotic fluid, oligohydramnios sequence, hypocalvaria, pulmonary hypoplasia, and ileocecal valve agenesis. To our knowledge, the latter has never been reported associated with RTD.

  12. Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis.

    Science.gov (United States)

    Miyano, Go; Morita, Keiichi; Kaneshiro, Masakatsu; Miyake, Hiromu; Koyama, Mariko; Nouso, Hiroshi; Yamoto, Masaya; Nakano, Reiji; Tanaka, Yasuhiko; Nishiguchi, Tomizo; Kawamura, Takakazu; Fukumoto, Koji; Urushihara, Naoto

    2015-01-01

    We describe herein a case of unilateral pulmonary agenesis (PA) with oesophageal atresia (EA)/tracheoesophageal fistula (TEF) that was diagnosed prenatally and repaired by esophagoesophagostomy with stable postoperative course. The patient was born at 34 weeks gestation, after ultrasonography at 22 weeks gestation showed possible right-sided diaphragmatic eventration or PA and EA was subsequently suspected due to hydramnios. The initial X-ray showed mediastinal shift to the right, and coil up sign of the nasogastric tube, without intracardiac anomaly. Immediately after the diagnosis of EA/TEF and unilateral PA on day 0, the patient was intubated in the operating room, and a gastrostomy tube was placed. After pulmonary status stabilized, at 4 days old, EA/TEF was repaired through a thoracotomy in the right 4 th intercostal space. The right main bronchus was noted to continue into the distal oesophagus; this fistula was ligated and divided, and a single-layer esophagoesophagostomy was performed under mild tension with one vertebral gap. The neonate was maintained on mechanical ventilation and gradually weaned to extubation at 7 days old. The postoperative course was uneventful, with the exception of prolonged jaundice that emerged at 3 months old. Laparoscopic cholangiography at that time excluded biliary atresia, and jaundice resolved spontaneously. The patient has not shown any respiratory symptoms or feeding difficulties as of the 12-month follow-up.

  13. Male Fertility after Spermatocele Formation from Tunica Vaginalis in Patients with Bilateral Vas Agenesis

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    Shamsa Ali

    2008-01-01

    Full Text Available To form spermatocele from vaginal layers as a sperm reservoir and intra-uterine insemination (IUI in infertile men with bilateral vas agenesis (BVA, we studied 19 patients with azoospermia due to BVA referred to our infertility clinic from March 1992 until May 2003. The ages of the patients ranged from 20-41 (mean 29.6 ± 5.8 years. After physical examination, hormone assay, testis biopsy, and confirming normal spermatogenesis, we have performed 23 alloplastic spermatoceles from the tunica vaginal layers in 11 patients. We retrieved sperms and performed IUI in 6 patients′ wives 3 months post-operation when scrotal sonography revealed spermatocele with a good volume of seminal liquid. Among 6 patients′ wives, 2 successful preg-nancies occurred, and 2 normal babies (one boy with normal bilateral vas and one girl were delivered successfully by cesarean section. We conclude that although the method of choice for fer-tility in BVA in artificial reproductive therapy era is percutaneous epididymal sperm aspiration (PESA and intracytoplasmic sperm injection (ICSI, but when the sophisticated facilities are not available or cost-effectiveness is matter of concern, alloplastic spermatocele from tunica vaginalis and IUI may be a viable option.

  14. Clinical prevalence of palmaris longus agenesis: a systematic review and meta-analysis.

    Science.gov (United States)

    Yammine, Kaissar

    2013-09-01

    We report a systematic review and a proportion meta-analysis of prevalence studies evaluating the prevalence of palmaris longus agenesis (PLA) in the literature. The overall PLA rate was defined to be the primary outcome. Secondary outcomes were rates of PLA in relation to ethnicity, laterality, side, gender, age, and hand dominance. We identified 26 articles which met the inclusion criteria. Meta-analyses showed an overall PLA pooled rate of 20.25%, higher than the commonly reported overall rate of 15%. Our results also showed significantly lower pooled rates in Africans (11.3%) and East Asians (4.5%) when compared to Arab Middle Eastern population (41.7%). A subgroup analysis of the African group showed a pooled rate of 2.71%, the lowest, in the East and South East African population. The pooled rate was 26.3% among Caucasians, 26.16% among South and Southeast Asians and 34.13% among Turkish. In discordance with the literature, PLA was statistically more predominant on the right side. No significant differences in PLA rates were found for laterality, gender, the combination of gender and side or the combination of gender and laterality. The lowest rate of PLA found in East and South East African populations might be indicative of the subsequent phylogenetic degeneration of the palmaris longus muscle in modern humans after the "Out of Africa" migration.

  15. Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Go Miyano

    2015-01-01

    Full Text Available We describe herein a case of unilateral pulmonary agenesis (PA with oesophageal atresia (EA/tracheoesophageal fistula (TEF that was diagnosed prenatally and repaired by esophagoesophagostomy with stable postoperative course. The patient was born at 34 weeks gestation, after ultrasonography at 22 weeks gestation showed possible right-sided diaphragmatic eventration or PA and EA was subsequently suspected due to hydramnios. The initial X-ray showed mediastinal shift to the right, and coil up sign of the nasogastric tube, without intracardiac anomaly. Immediately after the diagnosis of EA/TEF and unilateral PA on day 0, the patient was intubated in the operating room, and a gastrostomy tube was placed. After pulmonary status stabilized, at 4 days old, EA/TEF was repaired through a thoracotomy in the right 4 th intercostal space. The right main bronchus was noted to continue into the distal oesophagus; this fistula was ligated and divided, and a single-layer esophagoesophagostomy was performed under mild tension with one vertebral gap. The neonate was maintained on mechanical ventilation and gradually weaned to extubation at 7 days old. The postoperative course was uneventful, with the exception of prolonged jaundice that emerged at 3 months old. Laparoscopic cholangiography at that time excluded biliary atresia, and jaundice resolved spontaneously. The patient has not shown any respiratory symptoms or feeding difficulties as of the 12-month follow-up.

  16. Value of brain MRI when sonography raises suspicion of agenesis of the corpus callosum in fetuses.

    Science.gov (United States)

    Jarre, A; Llorens Salvador, R; Montoliu Fornas, G; Montoya Filardi, A

    To evaluate the role of magnetic resonance imaging (MRI) in fetuses with a previous sonographic suspicion of agenesis of the corpus callosum (ACC) to confirm the diagnosis and to detect associated intracranial anomalies. Single-center retrospective and descriptive observational study of the brain MRI performed in 78 fetuses with ACC sonographic suspicion between January 2006 and December 2015. Two experts in fetal imaging reviewed the MRI findings to evaluate the presence and morphology of the corpus callosum. When ACC was detected the whole fetal brain anatomy was thoroughly studied to determine the presence of associated anomalies. Prenatal MR imaging findings were compared to postnatal brain MRI or necropsy findings when available. Fetal MRI diagnosed 45 cases of ACC, 12 were partial (26.7%) and 33 complete (73.3%). In 28 cases (62,2%) associated intracranial anomalies were identified. The most often abnormality was ventriculomegaly (78,6%), followed by cortical malformations (53,6%), posterior fossa (25%) and midline anomalies (10,7%). Fetal brain MRI has an important role in the diagnosis of ACC and detection of associated anomalies. To perform a fetal brain MRI is important in fetuses with sonographic suspicion of ACC. Copyright © 2017 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Surgical management of agenesis of the vulva with atresia ani-et-distal recti in a heifer calf: A case report

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    Moses N Wamaitha

    2015-09-01

    Full Text Available Successful surgical intervention of atresia ani-et-distal recti with agenesis of vulva in a heifer calf is reported in this paper. The calf aging 1-day was presented with a history of swelling at the perineal region. In clinical examination, both vulval and anal openings were found absent. Initial surgical operation under sedation and local anesthesia was done to correct these abnormalities. As a result, the calf could urinate, but attempted defecation was not successful. Surgical operation was done again at the anal region to resolve this condition. Post-operatively, tetracycline spray was applied on both surgical wounds immediately after surgery, and repeated twice daily for 10 days. Amoxicillin trihydrate (at 750 mg/kg bwt and Phenylbutazone (at 400 mg/kg bwt were administered intramuscularly once, and the treatment was repeated on every alternate day up to 10 days of post-surgery. Finally, the calf was able to urinate and defecate normally, and the surgical wounds healed uneventfully within 14 days. [J Adv Vet Anim Res 2015; 2(3.000: 369-372

  18. Selected aspects of social cognition in patient with total agenesis of the corpus callosum (ACC and Arnold-Chiari desease – case study

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    Daniluk, Beata

    2013-06-01

    Full Text Available Aim. The goal of the research was a characteristic of emotional-social competencies and communicative abilities in a 16-years old patient with ACC and Arnold-Chiari disease and higher than average intelligence. Method. RHLB-PL was applied. Results. Total score in RHLB-PL suggested language and communication impairment. The greatest problems were observed in the field of behavioral self-control and discourse abilities. The patient had difficulties in the topic of the discourse maintaining, resisting from production of unconnected topics and comments, interject inappropriate remarks. Problems in humor comprehension and the dissociation between relative high level of written metaphors analysis abilities and low level of Picture Metaphors perception and explanation were observed. Linguistic Prosody was average. Conclusion. Patient M.J. with agenesis of corpus callosum presented high number of deficits typical in right hemisphere damage patients. It is possible to explain that fact in the context of interhemispheric transfer disorders, specially when complex material was processed.

  19. [Hemidiaphragmatic reconstruction: the evaluation of 3 clinical cases].

    Science.gov (United States)

    Cristofani, R; Burattini, M F; Campi, P; Morabito, A; Servoli, A; Moriconi, E; Ricci, E; Scalercio, V; Lauro, V; Bartoli, A

    1995-01-01

    The Authors after a review of the embriology, physiology and pathophysiology of diaphragm, report three cases of congenital or acquired diaphragmatical hernias. They discuss advantages and disadvantages of different surgical techniques on the basis of their technical experience as well as results obtained.

  20. A Rare Case of Bilateral Agenesis of Central Lower Incisors Asso¬ciated With Upper Impacted Canine- A Case Report

    Directory of Open Access Journals (Sweden)

    Anca PORUMB

    2016-03-01

    Full Text Available This case of a female patient, 14 yr old with association of the two anomalies, which we came across with in 2014, is rarely met in the specialty practice. The impacted canines are part of the group of dental anomalies of position, while the agenesis is part of the group of dental number anomalies. The orthodontic treatment in the two arches has to be differentiated, the therapeutic objectives being, also different in the two arches. Keywords: Agenesis, Impacted canines, Orthodontic appliances

  1. Successful radiofrequency catheter ablation of atrioventricular nodal reentrant tachycardia in a patient with dextrocardia due to unilateral pulmonary agenesis: a case report

    Directory of Open Access Journals (Sweden)

    Aksu T

    2015-02-01

    Full Text Available Tolga Aksu, Tumer Erdem Guler, Ebru Golcuk, Ismail Erden, Kazim Serhan Ozcan Department of Cardiology, Kocaeli Derince Education and Research Hospital, Derince, Kocaeli, Turkey Abstract: Radiofrequency catheter ablation of the slow pathway is considered to be the treatment of choice for patients with atrioventricular nodal reentrant tachycardia. We report a 34-year-old female with mirror image dextrocardia due to unilateral pulmonary agenesis who underwent successful slow pathway ablation for typical atrioventricular nodal reentrant tachycardia. Using contrast injection, cardiac anatomy was identified in a short time and successfully ablated. Keywords: dextrocardia, AVNRT, ablation, pulmonary agenesis

  2. The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies – Phenotypic and Aetiological Considerations

    Directory of Open Access Journals (Sweden)

    2004-03-01

    Full Text Available We report ten sporadic cases of Brazilian patients with facial midline defects, callosal agenesis, basal encephalocele, and ocular anomalies. This very rare cluster of anomalies has been well reported before. However, only until recently it is recognized as a syndrome belonging to frontonasal dysplasia spectrum. The ten cases confirm a distinct clinical entity and help to define the phenotype more precisely than previously. Up to now etiology remains unknown, although we conjecture that it is due to a mutation in TGIF gene.

  3. Truncated Cables1 causes agenesis of the corpus callosum in mice.

    Science.gov (United States)

    Mizuno, Seiya; Tra, Dinh T H; Mizobuchi, Atsushi; Iseki, Hiroyoshi; Mizuno-Iijima, Saori; Kim, Jun-Dal; Ishida, Junji; Matsuda, Yoichi; Kunita, Satoshi; Fukamizu, Akiyoshi; Sugiyama, Fumihiro; Yagami, Ken-ichi

    2014-03-01

    Agenesis of the corpus callosum (ACC) is a congenital abnormality of the brain structure. More than 60 genes are known to be involved in corpus callosum development. However, the molecular mechanisms underlying ACC are not fully understood. Previously, we produced a novel transgenic mouse strain, TAS, carrying genes of the tetracycline-inducible expression system that are not involved in brain development, and inherited ACC was observed in the brains of all homozygous TAS mice. Although ACC was probably induced by transgene insertion mutation, the causative gene and the molecular mechanism of its pathogenesis remain unclear. Here, we first performed interphase three-color fluorescence in situ hybridization (FISH) analysis to determine the genomic insertion site. Transgenes were inserted into chromosome 18 ∼12.0 Mb from the centromere. Gene expression analysis and genomic PCR walking showed that the genomic region containing exon 4 of Cables1 was deleted by transgene insertion and the other exons of Cables1 were intact. The mutant allele was designated as Cables1(TAS). Interestingly, Cables1(TAS) mRNA consisted of exons 1-3 of Cables1 and part of the transgene that encoded a novel truncated Cables1 protein. Homozygous TAS mice exhibited mRNA expression of Cables1(TAS) in the fetal cerebrum, but not that of wild-type Cables1. To investigate whether a dominant negative effect of Cables1(TAS) or complete loss of function of Cables1 gives rise to ACC, we produced Cables1-null mutant mice. ACC was not observed in Cables1-null mutant mice, suggesting that a dominant negative effect of Cables1(TAS) impairs callosal formation. Moreover, ACC frequency in Cables1(+/TAS) mice was significantly lower than that in Cables1(-/TAS) mice, indicating that wild-type Cables1 interfered with the dominant negative effect of Cables1(TAS). This study indicated that truncated Cables1 causes ACC and wild-type Cables1 contributes to callosal formation.

  4. Cavernous Angioma of the Corpus Callosum Presenting with Acute Psychosis

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    Giacomo Pavesi

    2014-01-01

    Full Text Available Psychiatric symptoms may occasionally be related to anatomic alterations of brain structures. Particularly, corpus callosum lesions seem to play a role in the change of patients’ behavior. We present a case of a sudden psychotic attack presumably due to a hemorrhagic cavernous angioma of the corpus callosum, which was surgically removed with complete resolution of symptoms. Although a developmental defect like agenesis or lipoma is present in the majority of these cases, a growing lesion of the corpus callosum can rarely be the primary cause. Since it is potentially possible to cure these patients, clinicians should be aware of this association.

  5. Polyhydramnios in Lrp4 knockout mice with bilateral kidney agenesis: Defects in the pathways of amniotic fluid clearance.

    Science.gov (United States)

    Tanahashi, Hiroshi; Tian, Qing-Bao; Hara, Yoshinobu; Sakagami, Hiroyuki; Endo, Shogo; Suzuki, Tatsuo

    2016-02-05

    Amniotic fluid volume during mid-to-late gestation depends mainly on the urine excretion from the foetal kidneys and partly on the fluid secretion from the foetal lungs during foetal breathing-like movements. Urine is necessary for foetal breathing-like movements, which is critical for foetal lung development. Bilateral renal agenesis and/or obstruction of the urinary tract lead to oligohydramnios, which causes infant death within a short period after birth due to pulmonary hypoplasia. Lrp4, which functions as an agrin receptor, is essential for the formation of neuromuscular junctions. Herein, we report novel phenotypes of Lrp4 knockout (Lrp4(-/-)) mice. Most Lrp4(-/-) foetuses showed unilateral or bilateral kidney agenesis, and Lrp4 knockout resulted in polyhydramnios. The loss of Lrp4 compromised foetal swallowing and breathing-like movements and downregulated the expression of aquaporin-9 in the foetal membrane and aquaporin-1 in the placenta, which possibly affected the amniotic fluid clearance. These results suggest that amniotic fluid removal was compromised in Lrp4(-/-) foetuses, resulting in polyhydramnios despite the impairment of urine production. Our findings indicate that amniotic fluid removal plays an essential role in regulating the amniotic fluid volume.

  6. BODY SIZE REDUCTION AND TOOTH AGENESIS IN LATE PLEISTOCENE MELES MELES (CARNIVORA, MAMMALIA FROM INGARANO (SOUTHERN ITALY

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    DAWID ADAM IURINO

    2014-03-01

    Full Text Available In mammals combined factors such as body size reduction and loss of peripheral teeth are often associated with endemism phenomena. This condition is particularly evident in insular contexts where is a complete geographic isolation. During the Pleistocene there have been several glacial stages, which changed the physiognomy of the Italian peninsula strongly influencing the distribution and morphology of mammalian faunas. Several genetic studies have shown that some Southern Italian areas have particular endemic species of small and medium size mammals. During Pleistocene these areas have been characterized by particular climatic/environmental conditions, and are generally called "glacial refugia". They represent geographically isolated areas over time, where the origin of faunas with peculiar features is favoured. In this study, the occurrence of Meles meles from the Late Pleistocene site of Ingarano (Apulia, Southern Italy is documented for the first time. This taxon is represented only by a partial skull (splancnocranum that, despite the relative completeness, includes peculiar and well-preserved dental features that could be related to a partial endemic condition. The fossil shows a reduced body size and the agenesis of peripheral teeth, both conditions that are typical of the extant badgers from Crete, Rhodes and Japan. To test this hypothesis, tomographic analysis have been provided to establish the dental agenesis, and, in order to understand the magnitude of the body size reduction, biometric analyses have been carried on. The obtained data have been compared to measures of the extant Eurasian badgers.SHORT NOTE

  7. Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus

    NARCIS (Netherlands)

    Sztriha, L; Frossard, P; Hofstra, RMW; Verlind, E; Nork, M

    2000-01-01

    Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (L1CAM) gene. L1 plays a key role in axon outgrowth and pathfinding during the development o

  8. A 3-year prospective study of implant-supported, single-tooth restorations of all-ceramic and metal-ceramic materials in patients with tooth agenesis

    DEFF Research Database (Denmark)

    Hosseini, Mandana; Worsaae, Nils; Schiødt, Morten

    2013-01-01

    OBJECTIVES: The purpose of this clinical study was to describe outcome variables of all-ceramic and metal-ceramic implant-supported, single-tooth restorations. MATERIALS AND METHODS: A total of 59 patients (mean age: 27.9 years) with tooth agenesis and treated with 98 implant-supported single...

  9. Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD: postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations.

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    Louise Harewood

    Full Text Available BACKGROUND: Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD is a relatively common, lethal malformation in humans. Established clinical risk factors include maternal insulin dependent diabetes mellitus and male sex of the fetus. In the majority of cases, no specific etiology can be established, although teratogenic, syndromal and single gene causes can be assigned to some cases. METHODOLOGY/PRINCIPAL FINDINGS: 45 unrelated fetuses, stillbirths or infants with lethal BRAHD were ascertained through a single regional paediatric pathology service (male:female 34:11 or 3.1:1. The previously reported phenotypic overlaps with VACTERL, caudal dysgenesis, hemifacial microsomia and Müllerian defects were confirmed. A new finding is that 16/45 (35.6%; m:f 13:3 or 4.3:1 BRAHD cases had one or more extrarenal malformations indicative of a disoder of laterality determination including; incomplete lobulation of right lung (seven cases, malrotation of the gut (seven cases and persistence of the left superior vena cava (five cases. One such case with multiple laterality defects and sirelomelia was found to have a de novo apparently balanced reciprocal translocation 46,XY,t(2;6(p22.3;q12. Translocation breakpoint mapping was performed by interphase fluorescent in-situ hybridization (FISH using nuclei extracted from archival tissue sections in both this case and an isolated bilateral renal agenesis case associated with a de novo 46,XY,t(1;2(q41;p25.3. Both t(2;6 breakpoints mapped to gene-free regions with no strong evidence of cis-regulatory potential. Ten genes localized within 500 kb of the t(1;2 breakpoints. Wholemount in-situ expression analyses of the mouse orthologs of these genes in embryonic mouse kidneys showed strong expression of Esrrg, encoding a nuclear steroid hormone receptor. Immunohistochemical analysis showed that Esrrg was restricted to proximal ductal tissue within the embryonic kidney. CONCLUSIONS/SIGNIFICANCE: The previously unreported

  10. Prenatal Diagnosis of Cantrell’s Pentalogy Associated with Agenesis of Left Limb in a Twin Pregnancy

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    Yigit Cakiroglu

    2014-01-01

    Full Text Available Pentalogy of Cantrell is a rare malformation described in the literature. We report a case of pentalogy of Cantrell associated with left limb deficiency in a twin pregnancy. The fetus with multiple anomalies revealed kyphosis, ectopia cordis, and a large defect with protruding liver and bowel loops at 12 weeks and 3 days of gestational age on ultrasound scan. The other fetus was ultrasonographically normal. We diagnosed a case of pentalogy of Cantrell in a twin pregnancy after exclusion of limb body wall complex, body stalk anomaly, and amniotic band syndrome and after delivery of the fetuses. Macroscopic examinations were ectopia cordis, extrusion of the abdominal organs without membranes surrounding, and agenesis of the left limb.

  11. One stage operation through modified posterior sagittal approach preserving the sphincter intact for anal agenesis with rectovestibular fistula.

    Science.gov (United States)

    Liem, Nguyen Thanh; Quynh, Tran Anh

    2015-04-01

    To describe the surgical technique and outcomes of an one stage operation through modified posterior sagittal approach (PSAP) preserving the sphincter intact for anal agenesia with rectovestibula fistula. 57 patients suffering from anal agenesis with rectovestibular fistula were operated by a one-stage operation through a modified PSAP preserving the external sphincter intact from 2002 to 2010. The operation was performed in one-stage through a posterior sagittal approach with three modifications: The external sphincter complex was not opened on the posterior side, the dissection was carried out outside the rectal pouch, the rectal pouch was not tapered and was pulled through the center of the external sphincter identified by muscle stimulator. Patients age varied from 3 days to 30 days (mean: 21±9 days). The mean operative time was 57±8 min (range, 35-90 min). There were no intraoperative complications. There were no intraoperative or postoperative deaths. There were no early postoperative complications. Follow up from 40 months to 140 was obtained in 52 (91.2%) patients. Constipation has seen in 3 patient, 46 patients (88.5%) had 1-2 defecations per day, 2 patients (3.85%) had 3-4 defecations per day, 1 patients (1.9%) had more than 4 defecations, and 3 patients(5.8%) had one defecation every 2-3 days. Rectal mucosal prolapse occurred in 7 patients who required a second operation. One stage operation through modified PSAP is feasible, is safe and provides good continence outcomes for anal agenesis with rectovestibular fistula. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Fetal development of the corpus callosum: Insights from a 3T DTI and tractography study in a patient with segmental callosal agenesis.

    Science.gov (United States)

    Scola, Elisa; Sirgiovanni, Ida; Avignone, Sabrina; Cinnante, Claudia Maria; Biffi, Riccardo; Fumagalli, Monica; Triulzi, Fabio

    2016-10-01

    Commissural embryology mechanisms are not yet completely understood. The study and comprehension of callosal dysgenesis can provide remarkable insights into embryonic or fetal commissural development. The diffusion tensor imaging (DTI) technique allows the in vivo analyses of the white-matter microstructure and is a valid tool to clarify the disturbances of brain connections in patients with dysgenesis of the corpus callosum (CC). The segmental callosal agenesis (SCAG) is a rare partial agenesis of the corpus callosum (ACC). In a newborn with SCAG the DTI and tractography analyses proved that the CC was made of two separate segments consisting respectively of the ventral part in the genu and body of the CC, connecting the frontal lobes, and the dorsal part in the CC splenium and the attached hippocampal commissure (HC), connecting the parietal lobes and the fornix. These findings support the embryological thesis of a separated origin of the ventral and the dorsal parts of the CC.

  13. Arrangement of fiber tracts forming Probst bundle in complete callosal agenesis: report of two cases with an evaluation by diffusion tensor tractography.

    Science.gov (United States)

    Utsunomiya, H; Yamashita, S; Takano, K; Okazaki, M

    2006-12-01

    We report two patients with complete callosal agenesis in whom Probst bundles in both hemispheres could be depicted by diffusion tensor tractography (DTT). While one patient had no associated telencephalic anomaly other than callosal agenesis, the other had cortical dysplasia in the right frontal lobe. Although Probst bundles in the three normal hemispheres were well developed, that in the hemisphere which was affected by cortical dysplasia was small and poorly developed. DTT also showed that the fibers from the frontal pole ran more on the inner side of the Probst bundle than those from a more caudal region of the frontal lobe. Furthermore, fibers from the orbital gyri ran along the outermost side of Probst bundle. The arrangement of these fiber tracts in Probst bundle may reflect the developmental process of callosal fibers in their normal formation.

  14. Rare case of truncus arteriosus with anomalous origin of the right coronary artery from the pulmonary artery (ARCAPA) and unilateral left pulmonary artery agenesis.

    Science.gov (United States)

    Mittal, Kartik; Dey, Amit K; Gadewar, Rohit; Sharma, Rajaram; Pandit, Nilesh; Rajput, Priya; Hira, Priya

    2015-04-01

    The incidence of congenital heart disease (CHD) is 2.4-3.8/1000 live births. Up to 70.7 % of all cases of CHD are reported to be benign; complex heart anomalies are extremely rare. Our case is extremely rare, as we report three very rare findings-truncus arteriosus, anomalous origin of the right coronary artery from the pulmonary artery (ARCAPA), and unilateral left pulmonary artery agenesis-in a single patient. Congenital complex cardiac abnormalities are very rare, and two-dimensional echocardiography screening should be supported by cardiac computed tomography (CT). We report a case of truncus arteriosus associated with ARCAPA and left pulmonary artery agenesis diagnosed by cardiac computed tomography; we believe that such an unusual case with all three of these entities has never been reported before.

  15. Isolated right pulmonary artery agenesis with aplasia of right upper lobe and with anomalous arterial supply from celiac axis, anomalous venous drainage

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    Tushar Madhav Kalekar

    2015-01-01

    Full Text Available Pulmonary artery agenesis is the complete absence of the right or left pulmonary artery. This lesion is commonly associated with other cardiac anomalies and is usually diagnosed incidentally. Unilateral absence of pulmonary artery with lung hypoplasia is very rare. Ipsilateral hypoplastic or absent central pulmonary artery in these patients will have a systemic arterial supply to peripheral pulmonary arteries of the affected lung from the descending thoracic or upper abdominal aorta. These findings are usually characterized as pulmonary veno lobar syndrome or scimitar syndrome when associated with ipsilateral total or partial anomalous pulmonary venous return from the lower lobe which drains into the inferior vena cava or less commonly to the hepatic, azygous, or portal vein, or into the right atrium and lung agenesis/hypoplasia.

  16. Agenesis of the internal carotid artery with a trans-sellar anastomosis: CT and MRI findings in late-onset congenital hypopituitarism

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    Mellado, J.M.; Merino, X.; Ramos, A.; Salvado, E.; Sauri, A. [Inst. de Diagnostic per la Imatge, Centre de Ressonancia Magnetica de Tarragona (Spain)

    2001-03-01

    A 29-year-old woman with a history of hypothyroidism since early childhood developed hypopituitarism. CT and MRI revealed anterior pituitary hypoplasia, an ectopic posterior lobe, a Chiari I malformation and agenesis of the right internal carotid artery with a trans-sellar anastomosis. This constellation of findings constitutes a previously unreported association in congenital hypopituitarism of late onset. The usefulness of imaging modalities and the pathogenic implications are also discussed. (orig.)

  17. A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

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    Lall Meena

    2011-09-01

    Full Text Available Abstract Background Partial Trisomy 11q syndrome (or Duplication 11q has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD. Deletion 1q44 (or Monosomy 1q44 is a well-defined syndrome, but there is controversy about the genes lying in 1q44 region, responsible for agenesis of the corpus callosum. We report a female child with the rare Partial Trisomy 11q syndrome and Deletion 1q44 syndrome. The genomic imbalance in the proband was used for molecular characterization of the critical genes in 1q44 region for agenesis of corpus callosum. Some genes in 11q14q25 may be responsible for laryngomalacia. Results We report a female child with dysmorphic features, microcephaly, growth retardation, seizures, acyanotic heart disease, and hand and foot deformities. She had agenesis of corpus callosum, laryngomalacia, anterior ectopic anus, esophageal reflux and respiratory distress. Chromosome analysis revealed a derivative chromosome 1. Her karyotype was 46,XX,der(1t(1;11(q44;q14pat. The mother had a normal karyotype and the karyotype of the father was 46,XY,t(1;11(q44;q14. SNP array analysis showed that the proband had a 54 Mb duplication of 11q14q25 and a 0.9 Mb deletion of the submicroscopic subtelomeric 1q44 region. Fluorescence Insitu Hybridisation confirmed the duplication of 11qter and deletion of 1qter. Conclusion Laryngomalacia or obstruction of the upper airway is the outcome of increased dosage of some genes due to Partial Trisomy 11q Syndrome. In association with other phenotypic features, agenesis of corpus callosum appears to be a landmark phenotype for Deletion 1q44 syndrome, the critical genes lying proximal to SMYD3 in 1q44 region.

  18. "Multicystic dysplastic kidney (Potter type II syndrome) and agenesis of corpus callosum (ACC) in two consecutive pregnancies: a possible teratogenic effect of electromagnetic exposure in utero".

    Science.gov (United States)

    Tonni, Gabriele; Azzoni, Daniela; Ventura, Alessandro; Ambrosetti, Fabrizio; De Felice, Claudio

    2008-01-01

    Agenesis of the corpus callosum is found in about 5 per 1,000 births and it is due to maldevelopment or, secondary, to destructive lesions. Multicystic dysplastic kidneys is a consequence of either developmental failure of the mesonephric blastema to form nephrons or to early urinary obstruction due to urethral or ureteric atresia and can be found in about 1 per 1,000 live births. A case of fetal multicystic dysplastic kidney disease (Potter type II syndrome) and complete agenesis of the corpus callosum demonstrated by the presence of Probst bundles associated with colpocephaly occurring in the same mother in her two consecutive pregnancies is reported. Data regarding possible teratogenetic effect due to electromagnetic exposure in utero have also been investigated and raised suspicionus as a potential risk factor. In cases of suspected second trimester ultrasound diagnosis of agenesis of corpus callosum (ACC), the following clinical management should be recommended: fetal karyotype; a second level scan with differentiation between underlying conditions such as hydrocephalus and holoprosencephaly; antenatal MRI to enhance the diagnostic accuracy of possible associated neuronal migration (when possible); and direct demonstration of the presence of the Probst bundles to neurohistology.

  19. The rectovaginal septum: visible on magnetic resonance images of women with Mayer-Rokitansky-Küster-Hauser syndrome (Müllerian agenesis)

    Science.gov (United States)

    Huebner, Markus; Rall, Katharina; Brucker, Sara Yvonne; Reisenauer, Christl; Siegmann-Luz, Katja Claudia; DeLancey, John O. L.

    2014-01-01

    Introduction and hypothesis Ongoing debate exists about whether the rectovaginal septum (Denonvilliers' fascia) is myth or reality. This study evaluates magnetic resonance images (MRI) of women with Müllerian agenesis for the presence of fascial layers between the rectum and the bladder to test the hypothesis that this layer exists in the absence of the vagina. Methods This is a secondary analysis of a study describing MRI aspects in women with vaginal agenesis before and after laparoscopic Vecchietti procedure. Study participants (n =16) had a multiplanar pelvic MR scan. Images were evaluated independently by two investigators (MH, JOLD) for the appearance of layers separate from the bladder and rectum in the area of interest, with characteristic anatomical features of the septum. Results Participants' mean age was 19.4±2.6 years ± standard deviation (SD). In 12 of 16 patients (75 %) a distinct layer between rectum and bladder was identified in either the axial (4/16; 25 %) or sagittal (12/16; 75 %) scan or both. Characteristic anatomical features included lateral attachment to the levator ani muscle, cranial fusion to the cul-de-sac peritoneum, and caudal insertion into the perineal body. Conclusions Three quarters of women with Müllerian agenesis have a visible layer between bladder and rectum. As none of the participants had a vagina, these results support the existence of a rectovaginal septum, separate from a vaginal adventitia. PMID:24022860

  20. Imperfuração anal associada à agenesia parcial do sacro e lipoma pré-sacral: síndrome de Currarino Imperforate anus associated with partial sacral agenesis and presacral lipoma: Currarino syndrome

    Directory of Open Access Journals (Sweden)

    Paulo Ricardo G. Zen

    2010-09-01

    anus and recto-vestibular fistula diagnosed in the first day after birth. At seven months of age, she started to present episodes of recurrent urinary infections and received a diagnosis of neurogenic bladder. At the same time, partial sacral agenesis was noted. Magnetic resonance imaging and computed tomography scan of the spine identified the presence of a fistula coincident with the lombo-sacral dimple described at clinical examination, amputation of the lower portion of the spinal cord with reduced number of nervous roots of the caudus equinus and lipomatous presacral mass. The patient did not present other dysmorphia. Parental radiologic evaluation did not identify sacral abnormalities. COMMENTS: Currarino syndrome is a rare autosomal dominant genetic disease characterized by the triad composed of anal atresia, partial sacral agenesis and presacral tumor. It includes, among others, teratomas, meningoceles, enteric cysts and lipomas, as observed in our patient. Children presenting anorectal abnormalities should be evaluated regarding the presence of Currarino syndrome. The partial sacral agenesis is a major sign of this disease.

  1. Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

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    Jamsheer Aleksander

    2013-01-01

    Full Text Available Abstract Background A partial duplication of the distal long arm of chromosome 5 (5q35-- > qter is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental retardation, microcephaly, short stature, skeletal anomalies, and craniofacial dysmorphism featuring flat facies, micrognathia, large, low-set dysplastic ears, hypertelorism, almond-shaped, down-slanted palpebral fissures, epicanthal folds, small nose, long philtrum, small mouth, and thin upper lip. Less frequent remarkable findings include craniosynostosis, heart defect, hypoplastic phalanges, preaxial polydactyly, hypospadias, cryptorchidism, and inguinal hernia. In most patients with a partial duplication of 5q the aberration occurred due to an inherited unbalanced translocation, therefore the phenotype was not reflective of pure trisomy 5q. Case presentation We report on a 9.5-year-old boy with some feature of Hunter-McAlpine syndrome including short stature, complex heart defect (dextrocardia, dextroversion, PFO, bilateral cryptorchidism, hypothyroidism, and craniofacial dysmorphism. Additionally, bilateral radial agenesis with complete absence of Ist digital rays, ulnar hypoplasia with bowing, choroidal and retinal coloboma, abnormal biliary vesicle were identified, which have never been noted in 5q trisomy patients. Karyotype analysis, sequencing and MLPA for TBX5 and SALL4 genes were unremarkable. Array comparative genomic hybridization detected a duplication on 5q35.2-5q35.3, resulting from a de novo chromosomal rearrangement. Our proband carried the smallest of all previously reported pure distal 5q trisomies encompassing terminal 5.4-5.6 Mb and presented with the most severe limb malformation attributed to the increased number of distal 5q copies. Conclusions We postulate that a terminal distal trisomy of 5q35.2-5q35.3, which maps 1.1 Mb telomeric to the MSX2 gene is causative for both

  2. Primary Combined Latissimus Dorsi and Serratus Anterior Flap Repair of Right-Sided Congenital Diaphragmatic Agenesis in a Neonate

    Science.gov (United States)

    Samuel, Madan; Parapurath, Rajiv

    2016-01-01

    Large diaphragmatic defects can be repaired with latissimus dorsi and serratus anterior muscle flaps. We report the first successful primary repair of complete congenital diaphragmatic agenesis using a combination of autologous living bio-tissue and synthetic mesh in a neonate born in the NMC Specialty Hospital in Dubai, United Arab Emirates, in May 2014. Poor Apgar scores, a scaphoid abdomen and absent breath sounds over the right hemithorax were observed at birth. Chest and abdominal X-rays revealed a diaphragmatic hernia. The neonate was stabilised using high-frequency oscillatory ventilation, nitric oxide and sildenafil. The right diaphragm was reconstructed using combined latissimus dorsi and serratus anterior muscle flaps reinforced by a flexible composite mesh. At 12 months old, the infant had normal respiratory function and the diaphragm was intact. No disabilities of the shoulder or scapula were observed. This case indicates that a combination of living tissue and synthetic mesh can be used to reconstruct a functional diaphragm with efficient pleuroperitoneal separation. PMID:26909223

  3. Does the serum uric acid level have any relation to arterial stiffness or blood pressure in adults with congenital renal agenesis and/or hypoplasia?

    Science.gov (United States)

    Yazici, Raziye; Guney, İbrahim; Altintepe, Lutfullah; Yazici, Mehmet

    2017-01-01

    The relationship between serum uric acid and arterial stiffness or blood pressure is not clear. The serum uric acid level and its association with cardiovascular risk is not well known in patients with reduced renal mass. We aimed to investigate the relation between serum uric acid levels and arterial stiffness and also blood pressure in patients with congenital renal agenesis and/or hypoplasia. In this single center, cross-sectional study, a total of 55 patients (39 (% 70.9) with unilateral small kidney and 16 (%29.1) with renal agenesis) were included. The median age was 35 (21-50) years. The study population was divided into tertiles of serum uric acid (according to 2.40-3.96, 3.97-5.10, and 5.11-9.80 mg/dl cut-off values of serum uric acid levels). Official and 24-h ambulatory non-invasive blood pressures of all patients were measured. The arterial stiffness was assessed by pulse wave velocity (PWV). PWV values were increased from first to third tertile (5.5 ± 0.6, 5.7 ± 0.8, 6.1 ± 0.7, respectively), but this gradual increase between tertiles did not reach significance. Linear regression analyses showed a positive correlation between serum uric acid levels and PWV (β = 0.40, p = 0.010), but no correlation was found between uric acid and daytime systolic blood pressure (β = 0.24, p = 0.345). In congenital renal agenesis/hypoplasia, the serum uric acid level was positively correlated with arterial stiffness, but there was no correlation with blood pressure.

  4. See-through Brains and Diffusion Tensor MRI Clarified Fiber Connections: A Preliminary Microstructural Study in a Mouse with Callosal Agenesis.

    Science.gov (United States)

    Kerever, Aurelien; Kamagata, Koji; Yokosawa, Suguru; Otake, Yosuke; Ochi, Hisaaki; Yamada, Taihei; Hori, Masaaki; Kamiya, Kouhei; Nishikori, Akira; Aoki, Shigeki; Arikawa-Hirasawa, Eri

    2015-01-01

    Clearing methods that render the brain optically transparent allow high-resolution three-dimensional (3D) imaging of neural networks. We used diffusion tensor imaging (DTI) and two-photon imaging of cleared brains to analyze white matter in BTBR mice. We confirmed corpus callosum agenesis and identified an abnormal commissure close to the third ventricle. DTI and cleared-brain two-photon imaging revealed that these commissural fibers constituted a frontal clustering of the ventral hippocampal commissure and provided a detailed assessment of white matter structure in mice.

  5. Array-CGH and quantitative PCR genetic analysis in a case with bilateral hypoplasia of pulmonary arteries and lungs and simultaneous unilateral renal agenesis.

    Science.gov (United States)

    Hussein, Kais; Steinemann, Doris; Scholz, Henrike; Menkhaus, Ralf; Feist, Henning; Kreipe, Hans

    2010-08-18

    We describe the clinical course and have characterised anatomically and genetically a unique case of a newborn with bilateral hypoplasia of pulmonary arteries, consecutive extremely hypoplastic lung tissue and associated unilateral renal agenesis. Intrauterine oxygenation by the placenta seemed to have allowed normotrophic body maturity but immediately after delivery, in the third trimester, progressive hypoxemia developed and the newborn succumbed to acute respiratory failure. Genetic analysis by array-based comparative genomic hybridisation and quantitative PCR revealed duplication of 1p21, which, however, might not be the disease causing aberration. This case might represent an extreme form of previously reported, rare cases with simultaneous dysorganogenesis of lungs and kidneys.

  6. Magnetic resonance fistulogram demonstration of urethrovesicovaginal fistula in a case of müllerian agenesis due to traumatic urethral coitus.

    Science.gov (United States)

    Verma, Ashish; Vyas, Surabhi; Patwari, Sriram; Verma, Madhvi; Srivastava, Arvind; Chandra Shukla, Ram

    2012-01-01

    Vesicovaginal fistula is not uncommon in women of childbearing age, and can occur due to a multitude of causes, the chief ones being infection and neoplasia. An extensive PUBMED search yielded only a few reports describing causation of such a lesion due to traumatic urethral coitus. The classic method to demonstrate such fistulas is by direct contrast-enhanced fistulography. Herein we report a case of urethrovesicovaginal fistula with müllerian agenesis caused by traumatic urethral coitus, as demonstrated using indirect magnetic resonance fistulography. Copyright © 2012 AAGL. Published by Elsevier Inc. All rights reserved.

  7. C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2017-01-01

    Full Text Available We report a 2.5 year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome. The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted palpebral fissures, depressed nasal bridge, broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect. The patient had in addition chalazion in left lower eyelid as well as bilateral Bitot’s spots most probably due to vitamin A deficiency. MRI brain revealed agenesis of the corpus callosum.

  8. Pneumotórax recidivante secundário à agenesia do diafragma Recurrent pneumothorax secondary to agenesis of the diaphragm

    Directory of Open Access Journals (Sweden)

    CAMILA BARACAT MENDINA

    2002-01-01

    Full Text Available Os autores relatam um caso de pneumotórax recidivante secundário à agenesia do diafragma em mulher de 36 anos de idade. O diagnóstico foi realizado pela história clínica e radiografia de tórax. Optada pela correção cirúrgica, foi diagnosticada a agenesia de diafragma e realizada pleurodese. No segundo mês de pós-operatório, perante um novo episódio de pneumotórax, optou-se por laqueadura das trompas para impedir a entrada de ar no abdome no período ovulatório e, conseqüentemente, evitar novos episódios de pneumotórax.The authors report a case of recurrent pneumothorax secondary to agenesis of the diaphragm in a 36-year old female. The diagnosis was established by means of clinical history and chest X-ray examination. Surgical correction was carried out. Diaphragmatic agenesis was detected during the procedure and pleural abrasion was performed. Two months following surgery another pneumothorax episode occurred. Fallopian tube ligature was then performed in order to prevent the entrance of air into the abdomen during ovulation, and thus avoid further recurrences of pneumothorax.

  9. The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q

    Energy Technology Data Exchange (ETDEWEB)

    Casaubon, L.K.; Melanson, M.; Marineau, C. [McGill Univ., Quebec (Canada)]|[Montreal General Hospital Research Institute (Canada)] [and others

    1996-01-01

    Peripheral neuropathy with or without agenesis of the corpus callosum (ACCPN) is a devastating neurodegenerative disorder that is transmitted as an autosomal recessive trait. Genealogical studies in a large number of affected French Canadian individuals suggest that ACCPN results from a single founder mutation. A genomewide search using 120 microsatellite DNA markers in 14 French Canadian families allowed the mapping of the ACCPN gene to a 5-cM region on chromosome 15q13-q15 that is flanked by markers D15S1040 and D15S118. A maximum two-point LOD score of 11.1 was obtained with the marker D15S971 at a recombination fraction of 0. Haplotype analysis and linkage disequilibrium support a founder effect. These findings are the first step in the identification of the gene responsible for ACCPN, which may shed some light on the numerous conditions associated with progressive peripheral neuropathy or agenesis of the corpus callosum. 28 refs., 2 figs., 3 tabs.

  10. Present time

    CERN Document Server

    Romero, Gustavo E

    2014-01-01

    The idea of a moving present or `now' seems to form part of our most basic beliefs about reality. Such a present, however, is not reflected in any of our theories of the physical world. I show in this article that presentism, the doctrine that only what is present exists, is in conflict with modern relativistic cosmology and recent advances in neurosciences. I argue for a tenseless view of time, where what we call `the present' is just an emergent secondary quality arising from the interaction of perceiving self-conscious individuals with their environment. I maintain that there is no flow of time, but just an ordered system of events.

  11. A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12.

    Science.gov (United States)

    Christensen, R D; Yaish, H M

    2012-03-01

    We observed a neonate with cleft lip and palate, 13 sets of ribs, agenesis of the corpus callosum, slightly small penis, hypoglycemia, and what initially appeared to be a marked leukocyte 'left shift' on complete blood count, but which was actually a Pelger-Huët anomaly. A chromosomal microdeletion was identified at1q41-42.12.

  12. Familial congenital bilateral agenesis of the acromion : a radiologically illustrated case report

    NARCIS (Netherlands)

    Hermans, JJ; Mooyaart, EL; Hendriks, JGE; Diercks, RL

    1999-01-01

    Familial congenital bilateral acromion absence was found in four members of one family. Only one of them presented with gradually increasing pain in his left shoulder, resembling a shoulder impingement syndrome. The other members did not have any symptoms. This is the first report of familial occurr

  13. Isolated agenesis of the right pulmonary artery with late manifestation of pulmonary hypertension

    Energy Technology Data Exchange (ETDEWEB)

    Huebsch, P.; Pichler, W.; Lang, I.; Mlczoch, J.

    1987-01-01

    The case of a woman patient of 25 years of age with acute cardiac decompensation is presented. The chest X-ray as well as the lung scan showed the typical features of absence of the right pulmonary artery. The diagnosis was confirmed angiographically. The sudden and late onset of symptoms of pulmonary hypertension is a remarkable feature.

  14. CATCHY PRESENTATIONS

    DEFF Research Database (Denmark)

    Eriksen, Kaare; Tollestrup, Christian; Ovesen, Nis

    2011-01-01

    An important competence for designers is the ability to communicate and present ideas and proposals for customers, partners, investors and colleagues. The Pecha Kucha principle, developed by Astrid Klein and Mark Dytham, has become a widely used and easy format for the presentation of new concepts...

  15. Self-referential and social cognition in a case of autism and agenesis of the corpus callosum

    Directory of Open Access Journals (Sweden)

    Lombardo Michael V

    2012-11-01

    Full Text Available Abstract Background While models of autism spectrum conditions (ASC are emerging at the genetic level of analysis, clear models at higher levels of analysis, such as neuroanatomy, are lacking. Here we examine agenesis of the corpus callosum (AgCC as a model at the level of neuroanatomy that may be relevant for understanding self-referential and social-cognitive difficulties in ASC. Methods We examined performance on a wide array of tests in self-referential and social-cognitive domains in a patient with both AgCC and a diagnosis of ASC. Tests included a depth-of-processing memory paradigm with self-referential and social-cognitive manipulations, self-report measures of self-consciousness, alexithymia, and empathy, as well as performance measures of first-person pronoun usage and mentalizing ability. The performance of the AgCC patient was compared to a group of individuals with ASC but without AgCC and with neurotypical controls. These comparison groups come from a prior study where group differences were apparent across many measures. We used bootstrapping to assess whether the AgCC patient exhibited scores that were within or outside the 95% bias-corrected and accelerated bootstrap confidence intervals observed in both comparison groups. Results Within the depth-of-processing memory paradigm, the AgCC patient showed decreased memory sensitivity that was more extreme than both comparison groups across all conditions. The patient’s most pronounced difficulty on this task emerged in the social-cognitive domain related to information-processing about other people. The patient was similar to the ASC group in benefiting less from self-referential processing compared to the control group. Across a variety of other self-referential (i.e. alexithymia, private self-consciousness and social-cognitive measures (i.e. self-reported imaginative and perspective-taking subscales of empathy, mentalizing, the AgCC patient also showed more extreme scores than

  16. [Isolated agenesis of the pulmonary valve in the adult. When is the proper time for surgery?].

    Science.gov (United States)

    Rangel-Abundis, A; Chávez-Pérez, E; Badui, E; García, P; Enciso, R; Sánchez Moreira, L M; Zamora, C; Marín, G

    1993-01-01

    The congenital absence of the pulmonary valves is a rare malformation that mainly affects children, frequently is associated with other cardiac malformations and very rarely is present in adults. Elective or urgent surgery is indicated in the symptomatic child; on the other hand, surgical treatment in the asymptomatic adult with this anomaly is controversial. Based on the reported experience in the literature, in the present article, the authors discuss the therapeutic approach of an asymptomatic 22-year-old male with pulmonary valvular absence with practically no hemodynamic repercussion. Although there had been few reported cases of isolated pulmonary valvular absence, the authors concluded that surgery is not a satisfactory solution and that it might be postponed to the time that patients develop congestive heart failure and or respiratory insufficiency. In order to detect that on time, we recommend a follow up based on periodic echocardiographic studies.

  17. Diagnosis of unilateral pulmonary arterial agenesis using scintiangiography - a case report -

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa; Kim, Choon Yul; Shinn, Kyung Sub; Bahk, Yong Whee [Catholic Medical College, Seoul (Korea, Republic of)

    1986-08-15

    A 7-year-old boy presented with productive cough and mild dyspne a. He had a history of intermittant attacks of bronchopneumonia, but otherwise he was healthy. He had a small right lung on chest roentgenograms. The diagnosis of developmental hypoplasia of the right lung due to congenital absence of the right pulmonary artery was made by radionuclide angiocardiography and subsequently confirmed by cardiac catheterization and angiography.

  18. Information Presentation

    Science.gov (United States)

    Holden, Kritina L.; Thompson, Shelby G.; Sandor, Aniko; McCann, Robert S.; Kaiser, Mary K.; Adelstein, Barnard D.; Begault, Durand R.; Beutter, Brent R.; Stone, Leland S.; Godfroy, Martine

    2009-01-01

    The goal of the Information Presentation Directed Research Project (DRP) is to address design questions related to the presentation of information to the crew. In addition to addressing display design issues associated with information formatting, style, layout, and interaction, the Information Presentation DRP is also working toward understanding the effects of extreme environments encountered in space travel on information processing. Work is also in progress to refine human factors-based design tools, such as human performance modeling, that will supplement traditional design techniques and help ensure that optimal information design is accomplished in the most cost-efficient manner. The major areas of work, or subtasks, within the Information Presentation DRP for FY10 are: 1) Displays, 2) Controls, 3) Procedures and Fault Management, and 4) Human Performance Modeling. The poster will highlight completed and planned work for each subtask.

  19. Information Presentation

    Science.gov (United States)

    Holden, K.L.; Boyer, J.L.; Sandor, A.; Thompson, S.G.; McCann, R.S.; Begault, D.R.; Adelstein, B.D.; Beutter, B.R.; Stone, L.S.

    2009-01-01

    The goal of the Information Presentation Directed Research Project (DRP) is to address design questions related to the presentation of information to the crew. The major areas of work, or subtasks, within this DRP are: 1) Displays, 2) Controls, 3) Electronic Procedures and Fault Management, and 4) Human Performance Modeling. This DRP is a collaborative effort between researchers at Johnson Space Center and Ames Research Center.

  20. Mandibular midline supernumerary tooth associated with agenesis of permanent central incisors: a diagnostic conundrum.

    Science.gov (United States)

    Marya, Charu Mohan; Sharma, Gaurav; Parashar, Vijay P; Dahiya, Vandana; Gupta, Anil

    2012-01-01

    Concomitant hypo-hyperdontia is a rare mixed numeric anomalous condition. The presence of this condition in the same area of dental arch and specifically in the mandibular anterior region is reported very infrequently. This case report presents a case of 20 years old male with congenitally missing permanent mandibular central incisors in conjunction with a mandibular midline supernumerary tooth. Only 3 cases have been documented in English literature till date. The article focuses on the review of mandibular mesiodens and the clarity regarding the usage of the terminology "mesiodens".

  1. Mayer–Rokitansky–Kuster–Hauser syndrome: Syndrome of Mullerian agenesis – A report of two cases

    Directory of Open Access Journals (Sweden)

    Sushma Yalavarthi

    2017-01-01

    Full Text Available The Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH syndrome, simply called Rokitansky syndrome or vaginal aplasia of the uterus, is a congenital condition that is characterized by the absence of the uterus and vagina, but ovaries are present and the external genitalia are normal. It affects at least 1 out of 4500 women. MRKH may be isolated (Type I, but it is more frequently associated with renal, vertebral, and to a lesser extent, auditory and cardiac defects (MRKH Type II or Mullerian duct aplasia, Renal dysplasia, and Cervical Somite anomalies association - mullerian duct aplasia, renal dysplasia, and cervical somite anomalies. There were very few cases of MRKH syndrome reported in the literature. Here, we report two cases of MRKH syndrome, one in a 20-year-old woman who presented with primary amenorrhea (MRKH Type I and the other in a 65-year-old woman with primary amenorrhea and associated renal malformations and a rare ovarian sertoliform variant of endometrioid tumor (MRKH Type II.

  2. Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia.

    Science.gov (United States)

    Swinnen, S; Bailleul-Forestier, I; Arte, S; Nieminen, P; Devriendt, K; Carels, C

    2008-02-01

    To describe the dentofacial phenotypes of three sisters with severe non-syndromic oligodontia, to report on the mutation analysis in three genes, previously shown to cause various phenotypes of non-syndromic oligodontia and in two other suspected genes. Based on the phenotypes in the pedigree of this family, the different possible patterns of transmission are discussed. Anamnestic data and a panoramic radiograph were taken to study the phenotype of the three sisters and their first-degree relatives. Blood samples were also taken to obtain their karyotypes and DNA samples. Mutational screening was performed for the MSX1, PAX9, AXIN2, DLX1 and DLX2 genes. The probands' pedigree showed evidence for a recessive or multifactorial inheritance pattern. Normal chromosomal karyotypes were found and - despite the severe oligodontia present in all three sisters - no mutation appeared to be present in the five genes studied so far in these patients. In the three sisters reported, their common oligodontia phenotype is not caused by mutations in the coding regions of MSX1, PAX9, AXIN2, DLX1 or DLX2 genes, but genetic factors most probably play a role as all three sisters were affected. Environmental and epigenetic factors as well as genes regulating odontogenesis need further in vivo and in vitro investigation to explain the phenotypic heterogeneity and to increase our understanding of the odontogenic processes.

  3. Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

    Directory of Open Access Journals (Sweden)

    Jonathan Lévy

    2013-01-01

    Full Text Available Ectrodactyly or split hand and foot malformations (SHFMs are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.

  4. Voting Present

    Directory of Open Access Journals (Sweden)

    James Lo

    2013-12-01

    Full Text Available During his time as a state senator in Illinois, Barack Obama voted “Present” 129 times, a deliberate act of nonvoting that subsequently became an important campaign issue during the 2008 presidential elections. In this article, I examine the use of Present votes in the Illinois state senate. I find evidence that Present votes can largely be characterized as protest votes used as a legislative tool by the minority party. Incorporating information from Present votes into a Bayesian polytomous item-response model, I find that this information increases the efficiency of ideal point estimates by approximately 35%. There is little evidence of significant moderation by Obama when Present votes are accounted for, though my results suggest that Obama’s voting record may have moderated significantly before his subsequent election to the U.S. Senate. My results also suggest that because legislative nonvoting may occur for a variety of reasons, naive inclusion of nonvoting behavior into vote choice models may lead to biased results.

  5. Dental root agenesis secondary to irradiation therapy in a case of rhabdomyosarcoma of the middle ear

    Energy Technology Data Exchange (ETDEWEB)

    Dury, D.C.; Roberts, M.W.; Miser, J.S.; Folio, J.

    1984-06-01

    There have been only a few published reports on the dental-facial effects of radiation therapy and the subsequent oral management of these patients. A case involving a 13-year-old black male patient with a history of rhabdomyosarcoma is presented. The patient received 4,050 rads of radiation to the right middle ear when he was 2 years of age. His residual medical and dental difficulties are apparently complications from the initial therapy. Examination of the oral cavity revealed bimaxillary micrognathia and marked loss of vertical dimension. A Class II facial profile with Class I molar relationship was observed. The mandible was thin and hypoplastic, with a small knife-edge alveolar ridge. The remaining eighteen erupted permanent teeth were very mobile, and root development had ceased after only initial formation. All of the teeth except the first permanent molars were extracted, and immediate partial dentures were inserted at the time of surgery. A discussion of therapeutic considerations follows the case report.

  6. The embryology and management of congenital pouch colon associated with anorectal agenesis.

    Science.gov (United States)

    Chadha, R; Bagga, D; Malhotra, C J; Mohta, A; Dhar, A; Kumar, A

    1994-03-01

    Forty-one infants with a pouch colon malformation accompanied by a high anorectal anomaly were treated between January 1986 and December 1990. The 41 cases constituted 9% of all anorectal malformations and 15.2% of high defects managed during this period. There were 32 boys and nine girls; three of the girls had an associated cloaca. Many of the babies presented in poor condition, with gross abdominal distension caused by the distended colonic pouch. The typical radiological feature was an enormously distended colonic shadow occupying more than 50% of the width of the abdomen. At the time of surgery, the patients were classified into 4 subgroups based on the length of the normal colon. All but three infants had a high wide fistula, with the genitourinary tract consisting of a colovesical fistula in males and a colovaginal or colocloacal fistula in females. Frequent associated malformations included duplication of the appendix and vesicoureteric reflux. The operations performed initially were a window colostomy of the pouch with or without division-ligation of the fistula, end-colostomy after fistula ligation, or subtotal pouch excision with tubularization of the remaining colon and end-colostomy. Thirteen of the 41 patients have undergone a definitive pull-through operation using the posterior sagittal approach, including two children in whom one-stage reconstruction of a cloaca was performed. Standardized management of this complex anomaly is proposed for the initial operation and for definitive reconstruction.

  7. Surgical-orthodontic treatment of Class III malocclusion with agenesis of lateral incisor and unerupted canine

    Directory of Open Access Journals (Sweden)

    Bruno Boaventura Vieira

    2013-06-01

    Full Text Available INTRODUCTION: Orthodontic-surgical treatment was performed in patient with skeletal Class III malocclusion due to exceeding mandibular growth. Patient also presented upper and lower dental protrusion, overjet of -3.0 mm, overbite of -1.0 mm, congenital absence of tooth #22, teeth #13 and supernumerary impaction, tooth #12 with conoid shape and partly erupted in supraversion, prolonged retention of tooth #53, tendency to vertical growth of the face and facial asymmetry. The discrepancy on the upper arch was -2.0 mm and -5.0 mm on the lower arch. METHODS: The pre-surgical orthodontic treatment was performed with extractions of the teeth #35 and #45. On the upper arch, teeth #53, #12 and supernumerary were extracted to accomplish the traction of the impacted canine. The spaces of the lower extractions were closed with mesialization of posterior segment. After aligning and leveling the teeth, extractions spaces closure and correct positioning of teeth on the bone bases, the correct intercuspation of the dental arch, with molars and canines in Angle's Class I, coincident midline, normal overjet and overbite and ideal torques, were evaluated through study models. The patient was submitted to orthognathic surgery and then the post-surgical orthodontic treatment was finished. RESULTS: The Class III malocclusion was treated establishing occlusal and facial normal standards.

  8. Technical presentation

    CERN Multimedia

    FI Department

    2008-01-01

    RADIOSPARES, the leading catalogue distributor of components (electronic, electrical, automation, etc.) and industrial supplies will be at CERN on Friday 3 October 2008 (Main Building, Room B, from 9.00 a.m. to 3.00 p.m.) to introduce its new 2008/2009 catalogue. This will be the opportunity for us to present our complete range of products in more detail: 400 000 part numbers available on our web site (Radiospares France, RS International, extended range of components from other manufacturers); our new services: quotations, search for products not included in the catalogue, SBP products (Small Batch Production: packaging in quantities adapted to customers’ requirements); partnership with our focus manufacturers; demonstration of the on-line purchasing tool implemented on our web site in conjunction with CERN. RADIOSPARES will be accompanied by representatives of FLUKE and TYCO ELECTRONICS, who will make presentations, demonstrate materials and answer any technical questio...

  9. Overview Presentation

    Science.gov (United States)

    Lytle, John

    2001-01-01

    This report provides an overview presentation of the 2000 NPSS (Numerical Propulsion System Simulation) Review and Planning Meeting. Topics include: 1) a background of the program; 2) 1999 Industry Feedback; 3) FY00 Status, including resource distribution and major accomplishments; 4) FY01 Major Milestones; and 5) Future direction for the program. Specifically, simulation environment/production software and NPSS CORBA Security Development are discussed.

  10. Tratamento cirúrgico e conservador da agenesia vaginal: análise de uma série de casos Surgical and non-surgical treatment of vaginal agenesis: analysis of a series of cases

    Directory of Open Access Journals (Sweden)

    Juliana Straehl Marin

    2012-06-01

    .4±2.0 cm versus 6.9±1.1 cm after treatment, p<0.0001 and Surgical Group (initial vaginal length 0.9±1.4 cm versus 8.0±0.8 cm after treatment, p<0.0001. Increased vaginal length was observed in Surgical Group compared to Frank Group (Frank Group=7.0±0.9 cm versus Surgical Group=8.0±0.8 cm, p=0.0005. Forty percent of Surgical Group women had surgical complications versus no complications with the Frank technique. All women reported to be satisfied with their sexual life. CONCLUSION: The present data indicate that both the surgical and Frank techniques are effective for the treatment of vaginal agenesis, resulting in the construction of a vagina that pewrmits sexual intercourse and sexual satisfaction. The favorable aspects of the Frank technique are related to its low cost and to the low rates of major complications.

  11. Technical presentation

    CERN Multimedia

    FP Department

    2009-01-01

    07 April 2009 Technical presentation by Leuze Electronics: 14.00 – 15.00, Main Building, Room 61-1-017 (Room A) Photoelectric sensors, data identification and transmission systems, image processing systems. We at Leuze Electronics are "the sensor people": we have been specialising in optoelectronic sensors and safety technology for accident prevention for over 40 years. Our dedicated staff are all highly customer oriented. Customers of Leuze Electronics can always rely on one thing – on us! •\tFounded in 1963 •\t740 employees •\t115 MEUR turnover •\t20 subsidiaries •\t3 production facilities in southern Germany Product groups: •\tPhotoelectric sensors •\tIdentification and measurements •\tSafety devices

  12. A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis.

    Science.gov (United States)

    Nath, Kamal; Boro, Bhanita; Naskar, Subrata

    2016-04-01

    The psychiatric co-morbidities in female population with mullerian agenesis is an area with limited research. This is probably due to the fact that when those patients are diagnosed not much attention or information is given for long term psychiatric follow-up. Owing to their inability to bear children, these subjects often become socially harassed. Thus these constant stressors may lead to development of psychopathology in future. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital abnormality with absence of uterus, cervix and vagina, but normal secondary sexual characteristics and external genitalia and occurs in every 1 out of 4000-10,000 females. There is also limited literature on the probable common chromosomal aetiology for both psychosis and MRKH patients. We, present here a case of MRKH syndrome, whose initial presentation was psychosis only. In this respect, we also highlight the much neglected need of appropriate psychiatric screening and provision of psychiatric care in this population.

  13. Rathke′s cyst with ectopic neurohypophysis presenting as severe short stature with delayed puberty

    Directory of Open Access Journals (Sweden)

    Deep Dutta

    2012-01-01

    Full Text Available Ectopic neurohypophysis (EN is found in nearly half of children with growth hormone deficiency (GHD. Rathke′s cyst (RC is uncommon in children and when present, hypopituitarism is found in nearly half of them. We present a fourteen and half-year-old girl with severe short stature and delayed puberty who on evaluation was found to have GHD, secondary hypocortisolism, and hypogonadism. Imaging revealed hypoplastic anterior pituitary, stalk agenesis, EN at tuber cinereum and intrapituitary RC. This is perhaps the first report of simultaneous occurrence of EN and RC, which was seen in a girl with multiple pituitary hormone deficiency. A primary defect in pituitary development may explain this simultaneous occurrence of EN and RC and hence this severe anterior pituitary function deficit.

  14. Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A.

    Directory of Open Access Journals (Sweden)

    Shufeng Li

    Full Text Available Here we report two unrelated Chinese families with congenital missing teeth inherited in an X-linked manner. We mapped the affected locus to chromosome Xp11-Xq21 in one family. In the defined region, both families were found to have novel missense mutations in the ectodysplasin-A (EDA gene. The mutation of c.947A>G caused the D316G substitution of the EDA protein. The mutation of c.1013C>T found in the other family resulted in the Thr to Met mutation at position 338 of EDA. The EDA gene has been reported responsible for X-linked hypohidrotic ectodermal dysplasia (XLHED in humans characterized by impaired development of hair, eccrine sweat glands, and teeth. In contrast, all the affected individuals in the two families that we studied here had normal hair and skin. Structural analysis suggests that these two novel mutants may account for the milder phenotype by affecting the stability of EDA trimers. Our results indicate that these novel missense mutations in EDA are associated with the isolated tooth agenesis and provide preliminary explanation for the abnormal clinical phenotype at a molecular structural level.

  15. A neonate with Joubert syndrome presenting with symptoms of Horner syndrome.

    Science.gov (United States)

    Lee, Narae; Nam, Sang-Ook; Kim, Young Mi; Lee, Yun-Jin

    2016-11-01

    Joubert syndrome (JS) is characterized by the "molar tooth sign" (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS. Neck MRI showed no definite lesion or mass around the cervical sympathetic chain. His global development was delayed. He underwent ophthalmologic surgery, and showed some improvement in his ptosis. To the best of our knowledge, the association of HS with JS has not yet been described. We suggest that early neuroimaging should be considered for neonates or young infants with diverse eye abnormalities to evaluate the underlying etiology.

  16. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem

    Directory of Open Access Journals (Sweden)

    Majid Malaki

    2012-01-01

    Full Text Available An 8-month-old girl with a history of asphyxia and respiratory distress immediately after birth was hospitalized at her fourth month of age with the diagnosis of kidney infection and it was revealed that she had a unilateral multicystic dysplastic kidney. In recent admission, she presented to emergency room with fever, hyperpnea, and apnea. In appearance, she was a hypotonic girl with broad forehead, hypertelorism, depressed nasal bridge and bitemporal regions, rapid vertical and horizontal nystagmus, and open mouth with salivation. In spite of normal physical growth, she had delayed developmental milestones. Blood gas O 2 saturation dropped after she received phenobarbital. Her urinary and blood tests were normal; however, her cranial magnetic resonance imaging (MRI revealed vermis agenesis and molar tooth sign. These physical and para-clinical findings suggested Joubert syndrome.

  17. Recurrent meningitis in a case of congenital anterior sacral meningocele and agenesis of sacral and coccygeal vertebrae Meningite recorrente em um paciente com meningocele sacral anterior e agenesia sacral e coccigea

    Directory of Open Access Journals (Sweden)

    Carolina A. R. Funayama

    1995-12-01

    Full Text Available A rare case of recurrent meningitis due to congenital anterior sacral meningocele and agenesis of the sacral and coccygeal vertebrae is described. An autosomal dominant inheritance is demonstrated for lower cord malformation, and environmental factors (chromic acid or fumes are discussed.Um caso raro de meningite recorrente devido a meningocele sacral anterior e agenesia das vértebras sacras coccígeas é descrito. Herança autossômica dominante para malformação medular caudal é demonstrada e, possíveis fatores ambientais (ligados ao cromo, são discutidos.

  18. In utero exposure to TCDD alters Wnt signaling during mouse prostate development: linking ventral prostate agenesis to downregulated β-catenin signaling.

    Science.gov (United States)

    Schneider, Andrew J; Moore, Robert W; Branam, Amanda M; Abler, Lisa L; Keil, Kimberly P; Mehta, Vatsal; Vezina, Chad M; Peterson, Richard E

    2014-09-01

    In utero exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) causes ventral prostate agenesis in C57BL/6J mice by preventing ventral prostatic budding in the embryonic urogenital sinus (UGS). TCDD (5 μg/kg, po) administered to pregnant dams on embryonic day 15.5 (E15.5) activates the aryl hydrocarbon receptor in the UGS mesenchyme, disrupting the mesenchymally derived paracrine signaling that instructs epithelial prostatic budding. How TCDD alters the mesenchymal milieu is not well understood. We previously showed that TCDD disrupts some aspects of Wnt signaling in UGSs grown in vitro. Here we provide the first comprehensive, in vivo characterization of Wnt signaling in male E16.5 UGSs during normal development, and after in utero TCDD exposure. Vehicle- and TCDD-exposed UGSs were probed by in situ hybridization to assess relative abundance and localization of RNA from 46 genes that regulate Wnt signaling. TCDD altered the staining pattern of five genes, increasing staining for Wnt10a and Wnt16 and decreasing staining for Ror2, Rspo2, and Wif1. We also used immunohistochemistry to show, for the first time, activation of β-catenin (CTNNB1) signaling in ventral basal epithelium of control UGSs at E16.5. This onset of CTNNB1 signaling occurred immediately prior to the initiation of ventral prostatic budding and is characterized by a pronounced increase in CTNNB1 nuclear localization and subsequent expression of the CTNNB1 signaling target gene, Lef1. In utero TCDD exposure prevented the onset of CTNNB1 signaling and LEF1 expression in the ventral basal epithelium, thereby elucidating a likely mechanism by which TCDD contributes to failed prostatic budding in the ventral UGS.

  19. Indirect ultrasonic signs of the callosal partial agenesis and hypoplasia in the fetus%胎儿胼胝体部分性缺失及发育不良横切面特征声像分析

    Institute of Scientific and Technical Information of China (English)

    蔡丹蕾; 李丽娟; 汪南; 吴丽红; 杜柳; 谢红宁

    2014-01-01

    目的:总结胼胝体部分性缺失及发育不良胎儿产前二维超声常规横切面特征声像,为产前超声诊断部分性胼胝体缺失提供线索。方法:回顾性分析本院2006年至今经MRI或大体病理确诊的单纯性胼胝体部分性缺失病例产前常规二维横切面声像图中透明隔间腔缺失、侧脑室异常及第三脑室上抬发生率,追踪预后及染色体结果。结果:经MRI或大体病理证实单纯性胼胝体部分性缺失病例10例。9例为部分性胼胝体缺失,1例为胼胝体发育不良。透明隔间腔缺失率20%,侧脑室异常发生率60%,第三脑室上抬发生率80%。8例终止妊娠,2例出生:1例随访至2岁,生长发育无异常;1例3岁,随访至今,生长发育均落后于同龄儿童。6例行染色体检查,结果均正常。结论:以二维超声横切面间接征象作为胼胝体部分性缺失的产前诊断线索是可行的。胼胝体部分性缺失胎儿特征声像发生率与完全性胼胝体缺失胎儿不同,其侧脑室及第三脑室异常发生率较透明隔间腔缺失率高。单纯性胼胝体部分性缺失胎儿染色体结果正常,预后未知。%Objective To investigate antenatal sonographic findings of the fetal isolated callosal hypoplasia and partial agenesis. Methods A retrospective study was performed on the cases of hypoplasia and partial agenesis of the corpus callosum suspected at antenatal sonographic basic examination from 2006 to 2014, all the cases were confirmed by pathology or magnetic resonance imaging(MRI). For the surviving infants, clinical follow-up had been performed to assess the developmental outcome. Results Thirteen fetuses suspected with callosal underdevelopment were identified at a median gestational age of 31 (range, 18~39) weeks. Ten cases were confirmed by autopsy and MRI, including 9 with partial agenesis and 1 with hypoplasia. Among the 10 fetuses confirmed with isolated partial

  20. A 3-year prospective study of implant-supported, single-tooth restorations of all-ceramic and metal-ceramic materials in patients with tooth agenesis.

    Science.gov (United States)

    Hosseini, Mandana; Worsaae, Nils; Schiødt, Morten; Gotfredsen, Klaus

    2013-10-01

    The purpose of this clinical study was to describe outcome variables of all-ceramic and metal-ceramic implant-supported, single-tooth restorations. A total of 59 patients (mean age: 27.9 years) with tooth agenesis and treated with 98 implant-supported single-tooth restorations were included in this study. Two patients did not attend baseline examination, but all patients were followed for 3 years. The implants supported 52 zirconia, 21 titanium and 25 gold alloy abutments, which retained 64 all-ceramic and 34 metal-ceramic crowns. At baseline and 3-year follow-up examinations, the biological outcome variables such as survival rate of implants, marginal bone level, modified Plaque Index (mPlI), modified Sulcus Bleeding Index (mBI) and biological complications were registered. The technical outcome variables included abutment and crown survival rate, marginal adaptation of crowns, cement excess and technical complications. The aesthetic outcome was assessed by using the Copenhagen Index Score, and the patient-reported outcomes were recorded using the OHIP-49 questionnaire. The statistical analyses were mainly performed by using mixed model of ANOVA for quantitative data and PROC NLMIXED for ordinal categorical data. The 3-year survival rate was 100% for implants and 97% for abutments and crowns. Significantly more marginal bone loss was registered at gold-alloy compared to zirconia abutments (P = 0.040). The mPlI and mBI were not significantly different at three abutment materials. The frequency of biological complications was higher at restorations with all-ceramic restorations than metal-ceramic crowns. Loss of retention, which was only observed at metal-ceramic crowns, was the most frequent technical complication, and the marginal adaptations of all-ceramic crowns were significantly less optimal than metal-ceramic crowns (P = 0.020). The professional-reported aesthetic outcome demonstrated significantly superior colour match of all-ceramic over metal

  1. A newer variant of congenital pouch colon with rectal agenesis: management strategy and review of the literature.

    Science.gov (United States)

    Singh, Sunita; Ahmed, Intezar; Wakhlu, Ashish

    2011-08-31

    A 3-day-old male baby presented with clinico-radiological features of rectal atresia with colo-urinary fistula. There was no radiological evidence of congenital pouch colon (CPC), but per-operatively CPC of unusual anatomy was found. The CPC was intermediate between type I and type II of Narsimha's classification. The pouch had rudimentary appendix and proximal colovesical fistula. The distal end of CPC was free. In the first stage, diverting ileostomy was done. In follow-up, after 1 month because of rectourinary fistula baby developed hyperchloremic metabolic acidosis and uremic sepsis. First metabolic correction and control of sepsis were done. Thereafter, abdomino-posterior saggital approach was used for excision of colovesical fistula, appendectomy, coloplasty and colorectal anastmosis. The ileostomy was left undisturbed. The infant at present is waiting for the third stage ileostomy closure.

  2. A newer variant of congenital pouch colon with rectal agenesis: management strategy and review of the literature

    OpenAIRE

    2011-01-01

    A 3-day-old male baby presented with clinico-radiological features of rectal atresia with colo-urinary fistula. There was no radiological evidence of congenital pouch colon (CPC), but per-operatively CPC of unusual anatomy was found. The CPC was intermediate between type I and type II of Narsimha’s classification. The pouch had rudimentary appendix and proximal colovesical fistula. The distal end of CPC was free. In the first stage, diverting ileostomy was done. In follow-up, after 1 month be...

  3. Incidencia de agenesia dental en perros Beagle. Resultados preliminares(Dental agenesis incidence in Beagle dogs. Preliminary results)

    OpenAIRE

    Rodríguez Sosa; Cabrera García, A; Domínguez López, HA; Soca Pérez, M; Purón Guzméli, CA; Macías Hernández, I; Gil Díaz, F; Aliaga Aleaga, Y; Guerrero Contreras, M; Acosta Berbes, A

    2011-01-01

    ResumenEn el presente trabajo se examinaron 49 perros Beagle procedentes del CENPALAB que fueron mantenidos bajo el mismo régimen de convivencia, alimentación y manejo en el Bioterio de la Facultad de Medicina “Victoria de Girón” tributarios todos a estudios de implantes dentales.AbstractForty-nine Beagle dogs coming from CENPALAB were maintained under the same coexistence, feeding and handling regime in the Bioterio of Medicine High School “Victoria de Girón” tributary to studies of dental i...

  4. Incidencia de agenesia dental en perros Beagle. Resultados preliminares(Dental agenesis incidence in Beagle dogs. Preliminary results

    Directory of Open Access Journals (Sweden)

    Rodríguez Sosa

    2011-11-01

    Full Text Available ResumenEn el presente trabajo se examinaron 49 perros Beagle procedentes del CENPALAB que fueron mantenidos bajo el mismo régimen de convivencia, alimentación y manejo en el Bioterio de la Facultad de Medicina “Victoria de Girón” tributarios todos a estudios de implantes dentales.AbstractForty-nine Beagle dogs coming from CENPALAB were maintained under the same coexistence, feeding and handling regime in the Bioterio of Medicine High School “Victoria de Girón” tributary to studies of dental implant all them.

  5. Callosal agenesis affects consistency of laterality in a paw preference task in BALB/cCF mice.

    Science.gov (United States)

    Manhães, Alex C; Schmidt, Sergio L; Filgueiras, Cláudio C

    2005-04-15

    We tested the hypothesis that the ontogenetic development of the corpus callosum (CC) affects the consistency of laterality in a paw preference task. Adult male mice (55 normal and 29 acallosal) of the BALB/cCF strain were initially tested (twice; inter-test interval: 72 h) in an unbiased setup in which both forepaws could easily perform a reaching movement. In a subsequent test, animals were placed in a biased setup that favored the use of the non-preferred paw. Acallosal and normal mice were strongly lateralized in the unbiased setup. Additionally, while normal mice did not present a populational bias favoring one of the paws, acallosal mice presented a significant bias favoring the left paw. In the biased setup, left- and right-pawed normal mice were equally consistent (approximately 65% of the animals, in both groups, used the preferred paw of the initial two tests, in spite of the bias). Conversely, while left-pawed acallosal mice were as consistent (65%) as normal mice, only 20% of right-pawed mice were consistent. These results suggest that the development of the CC affects consistency of laterality in a side-dependent manner. These results are discussed considering the role of the CC in the establishment of behavioral lateralization.

  6. Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner′s syndrome

    Directory of Open Access Journals (Sweden)

    Jane Jackie David

    2016-01-01

    Full Text Available We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner′s syndrome.

  7. Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner's syndrome.

    Science.gov (United States)

    David, Jane Jackie; Mohanlal, Smilu; Sankhe, Punam; Ghildiyal, Radha

    2016-01-01

    We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD) with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner's syndrome).

  8. Abstract Presentations: What Do SGIM Presenters Prefer?

    OpenAIRE

    Tulsky, Asher A.; Kouides, Ruth W

    1998-01-01

    We surveyed physicians presenting abstracts at the 1995 Society of General Internal Medicine annual meeting to determine whether the oral or poster format better achieved their presentation goals. Poster presentations better met respondents' objectives for feedback and criticism and for networking and developing collaborative projects, while oral presentations better met their objectives for national visibility and sharing knowledge within one's field. Sixty-nine percent of respondents prefer...

  9. Functional reorganization of the auditory pathways (or lack thereof) in callosal agenesis is predicted by monaural sound localization performance.

    Science.gov (United States)

    Paiement, Philippe; Champoux, François; Bacon, Benoit A; Lassonde, Maryse; Mensour, Boualem; Leroux, Jean-Maxime; Lepore, Franco

    2010-01-01

    Neuroimaging studies show that permanent peripheral lesions such as unilateral deafness cause functional reorganization in the auditory pathways. However, functional reorganization of the auditory pathways as a result of higher-level damage or abnormalities remains poorly investigated. A relatively recent behavioural study points to functional changes in the auditory pathways in some, but interestingly not in all, of the acallosal individuals that were tested. The present study uses fMRI to investigate auditory activities in both cerebral hemispheres in those same acallosal subjects in order to directly investigate the contributions of ipsilateral and contralateral functional pathways reorganization. Predictions were made that functional reorganization could be predicted from behavioural performance. As reported previously in a number of neuroimaging studies, results showed that in neurologically intact subjects, binaural stimulation induced balanced activities between both hemispheres, while monaural stimulation induced strong contralateral activities and weak ipsilateral activities. In accordance with behavioural predictions, some acallosal subjects showed patterns of auditory cortical activities that were similar to those observed in neurologically intact subjects while others showed functional reorganization of the auditory pathways. Essentially they showed a significant increase and a significant decrease of neural activities in the contralateral and/or ipsilateral pathways, respectively. These findings indicate that at least in some acallosal subjects, functional reorganization inside the auditory pathways does contribute to compensate for the absence of the corpus callosum.

  10. Agenesia isolada da artéria pulmonar direita ou esquerda: avaliação da evolução natural e a longo prazo, após intervenção corretiva Isolated unilateral pulmonary artery agenesis: evaluation of natural and long term evolution after corrective surgery

    Directory of Open Access Journals (Sweden)

    Edmar Atik

    2006-10-01

    Full Text Available OBJETIVO: Agenesia da artéria pulmonar, direita ou esquerda, rara como anomalia isolada, foi relatada em 119 casos desde 1978. Apresenta-se clinicamente com hipertensão pulmonar (HP na infância e com hemoptise no adulto. Intervenções como reconstrução arterial pulmonar e lobectomia foram realizadas em 17% dos casos. Analisamos quatro destes casos, sendo dois em evolução natural e dois com regressão da HP, após longo tempo da correção operatória. MÉTODOS: Quatro crianças, três do sexo masculino, com 22,10 e 35 meses de idade e uma do sexo feminino com 20 meses, com insuficiência cardíaca direita (ICD e cianose na primeira e ICD na segunda e cansaço aos esforços nas outras duas. Todas tinham sinais de HP, sobrecarga ventricular direita no ECG e cardiomegalia. Cateterismo cardíaco mostrou pressões sistêmicas na artéria pulmonar contralateral na agenesia à direita em três e na agenesia à esquerda em um caso. RESULTADOS: Restabelecimento cirúrgico da continuidade arterial pulmonar foi possível em dois casos, na criança de 22 e na de 10 meses de idade, pela interposição de Goretex de diâmetro de 7 mm entre as artérias pulmonares até o hilo pulmonar contralateral hipoplásico. Houve regressão dos sinais de HP em período imediato e tardio, com 7 e 2,5 anos de idade respectivamente. A relação das pressões entre os ventrículos direito e esquerdo era de 30 e 40%, nos dois casos. A perfusão pulmonar aumentou de 8 para 44% e de 8 para 23%, nos dois casos. O mesmo procedimento foi programado para os outros pacientes. CONCLUSÃO: Esta técnica se torna a operação de escolha para casos similares, raramente descritos na literatura, mesmo em presença de acentuada HP e hipoplasia arterial pulmonar contralateral.OBJECTIVE: Unilateral pulmonary artery agenesis is an uncommon isolated anomaly and since 1978 only 119 cases have been reported. In general the condition presents as pulmonary hypertension (PH in children and

  11. Presentation rubric: improving faculty professional presentations.

    Science.gov (United States)

    Hayne, Arlene N; McDaniel, Gretchen S

    2013-01-01

    This article describes the content of a presentation evaluation rubric for use in the development and improvement in faculty performance to enhance learning. Lectures or professional presentations require skills that can be learned through the use of evidence-based practices for all forms of public speaking. A core competency of nursing faculty is to serve as a role model in skilled oral communication. The use of an evaluation presentation rubric can increase faculty competency in this area. © 2013 Wiley Periodicals, Inc.

  12. Features of MRI and clinical analysis of callosal agenesis in 53 cases%胼胝体发育不全53例MRI特点与临床分析

    Institute of Scientific and Technical Information of China (English)

    刘其春; 高祚芝; 王宏波; 郑律

    2009-01-01

    胼胝体发育不全(Agenesis of the corpus callosum,ACC)是小儿常见的先天性颅脑发育畸形。1899年由Bruce首次描述,以后相继有多个类似病例的报道,其发病率约为1∶4000,ACC可以单独存在,但多数ACC合并有其他中枢神经系统先天畸形。MRI可以显示CT不易发现的胼胝体特征性改变,是脑先天发育不良患者最有价值的影像学检查方法。现回顾性分析53例ACC患者的MRI表现,并探讨其与病因及临床症状的关系。

  13. Making your presentation fun: creative presentation techniques

    Energy Technology Data Exchange (ETDEWEB)

    KEENEN,MARTHA JANE

    2000-05-18

    What possesses someone to volunteer and go through hoops and red tape to make a presentation at a conference? For that matter, why does anyone ever present anything to anyone? Actually, presentations are a fact of life and there are many reasons for doing a presentation and doing it well. New and existing staff need training and orientation to the way things are done here. Handing all of them a manual and hoping they read it is pretty much a waste of paper. On the other hand, an effective, entertaining and upbeat presentation on the relevant topics is more likely to stick with those people. They will even have a name and face to remember and seek out when they have an issue on or with that topic. This can be a very effective beginning for networking with new peers. The presenter is seen as knowledgeable, as a source of information on company topics and possibly evaluated as a potential mentor or future manager. Project staff and/or peers benefit from clear, concise, presentations of topical knowledge. This is one way that a group working on various aspects of the same project or program can stay in touch and in step with each other. Most importantly, presentations may be the best or only door into the minds (and budgets) of management and customers. These presentations are a wonderful opportunity to address legal and compliance issues, budget, staffing, and services. Here is a chance, maybe the only one, to demonstrate and explain the wonderfulness of a program and the benefit they get by using the services offered most effectively. An interactive presentation on legal and compliance issues can be an effective tool in helping customers and/or management make good risk management decisions.

  14. 产前三维超声TUI技术对胎儿胼胝体发育不全的诊断价值%Value of Tomographic Ultrasound Imaging in Prenatal Diagnosis of Fetal Agenesis of the Corpus Callosum

    Institute of Scientific and Technical Information of China (English)

    林琪; 范海波; 甘晗靖; 孙枫; 吴瑛

    2013-01-01

    Objective To analyze the graphic features of fetal agenesis of the corpus callosum (ACC) detected by tomographic ultrasound imaging(TUI) and assess the value of TUI in the ACC. Methods 3D volume data of 35 cases of fetus with ACC were analyzed with TUI,the sagittal plane median view of the brain was obtained and the outcome was compared with that of two-dimensional (2D) ultrasound. Results There was difference in the revealing rate of ACC between TUI and 2D ultrasound(P<0. 05). Conclusions TUI is a useful tool in the prenatal diagnosis of ACC.%目的 分析三维断层超声显像技术(tomographic ultrasound imaging,TUI)在胎儿胼胝体发育不全(agenesis of the corpus callosum,ACC)中的图像特征,评价TUI诊断胎儿胼胝体发育不全的价值.方法 应用TUI对34例二维可疑ACC的三维容积数据进行后处理分析,获得显示胼胝体最好的胎头正中矢状切面,并将结果与二维超声结果进行比较.结果 TUI技术对ACC的显示率为97.0% (33/34);二维超声对ACC的显示率为52.9% (18/34),二者的显示率差别有统计意义(P<0.05).结论 三维超声TUI技术在胎儿ACC的产前诊断上具有较高的应用价值.

  15. Agenesis of the Corpus Callosum

    Science.gov (United States)

    ... Translational Research Research at NINDS Focus on Research Alzheimer's & Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord Injury Stem Cells Traumatic Brain Injury Trans-Agency Activities Interagency Research ...

  16. Develop your presentation skills

    CERN Document Server

    Theobald, Theo

    2016-01-01

    Going beyond handling nerves and presenting PowerPoint slides, the third edition of "Develop Your Presentation Skills "offers practical advice on developing a captivating presentation, constructing compelling content, and boosting self-confidence. The book includes three new chapters on delivering a "stripped down"presentation, using new media to engage with the audience, and handling being asked to present on short notice."

  17. Teaching Presentation Skills

    Science.gov (United States)

    Baker, William H.; Thompson, Michael P.

    2004-01-01

    Effective teaching of presentation skills focuses on the most important element of the presentation--the message itself. Some instructors place the heaviest emphasis on the messenger (the presenter) and focus their presentation feedback on all the presenter is doing wrong--saying "um," gesturing awkwardly, and so forth. When students receive this…

  18. Workshop Presentations: Overviews

    Data.gov (United States)

    National Aeronautics and Space Administration — These slides were presented at the AePW, April 21-22, 2012. Additional presentations can be found on each of the associated analysis webpages. Separate pages contain...

  19. Marketing through Video Presentations.

    Science.gov (United States)

    Newhart, Donna

    1989-01-01

    Discusses the advantages of using video presentations as marketing tools. Includes information about video news releases, public service announcements, and sales/marketing presentations. Describes the three stages in creating a marketing video: preproduction planning; production; and postproduction. (JOW)

  20. Make Your Presentation Powerful

    Science.gov (United States)

    Palmer, Erik

    2015-01-01

    "I was planning on doing a lot of work today during your presentation, but I couldn't get anything done. I just had to pay attention!" The author received this unexpected feedback from a teacher at the end of a presentation he gave, and although he considered it a compliment, it made him reflect on the dire state of presentations in…

  1. Presenting Food Science Effectively

    Science.gov (United States)

    Winter, Carl K.

    2016-01-01

    While the need to present food science information effectively is viewed as a critical competency for food scientists by the Institute of Food Technologists, most food scientists may not receive adequate training in this area. Effective presentations combine both scientific content and delivery mechanisms that demonstrate presenter enthusiasm for…

  2. Rotating Poster Presentations

    Science.gov (United States)

    Lagares, Manuel; Reisenleutner, Sandra

    2017-01-01

    Oral presentations are a common practice in foreign language classes, often used to assess students' speaking skills. Usually, the presentations are delivered by students in front of the class, often with PowerPoint slides or Prezi as support. However, frequently the audience does not engage with the presentation and thus, the benefits of this…

  3. 胎儿胼胝体发育不全的超声诊断及临床分析%The Ultrasonographic Diagnosis of Fetal Corpus Callosum Agenesis and Clinical Analysis

    Institute of Scientific and Technical Information of China (English)

    程桂静; 杨太珠; 徐红; 张波

    2012-01-01

    Objective To investigate the ultrasonographic characteristics, cerebral and extracerebral malformation, chromosomal abnormality and prognosis of fetal corpus callosum agenesis( ACC). Methods 36 cases of fetal ACC were retrospectively analyzed from January 2008 to April 2011 in our hospital. Results 36 cases of fetal ACC were diagnosed by ultrasonography, with 19 cases combined other parts of malformation. The diagnostic results with MRI were as the same as with ultrasound in 4 cases. 31 cases were performed Down syndrome screening, which were high risk in 16 cases. 12 cases were performed chromosomal screening, with 1 case of 18 - trisomy and 1 case of inv 9. In the following up, 29 cases were performed induced abortion, 4 cases were birth, and 3 cases were lost of follow up. Conclusions The fetal ACC is often associated with other parts of malformation, prenatal ultrasonic examination can make the preliminary diagnosis for this disease. When ultrasonographic diagnosis of this disease is not clear, MRI can be used as auxiliary method to provide effective clinical information, which can provide the evidence for making suitable decision.%目的 探讨胎儿胼胝体发育不全(agenesis of corpus callosum,ACC)的超声特点、合并的颅内外畸形、染色体及预后状况.方法 回顾性分析我院2008年1月~2011年4月产前超声诊断为胎儿ACC的胎儿共36例.结果 超声诊断为胎儿ACC 36例,其中19例合并其他部位畸形;4例孕妇行核磁共振检查,其结果与超声诊断一致;31例行唐氏筛查,16例为唐氏高风险;12例行染色体检查,1例18-三体综合征,1例9号臂间倒位核型(inv 9).随访结果中,29例进行了引产,4例出生,3例失访.结论 胎儿ACC常合并其他部位的畸形,产前超声检查能够为胎儿ACC作出初步诊断,当超声不能明确诊断时,MRI可以作为辅助检查方法,为制定适合的决策提供依据.

  4. Innovative presentations for dummies

    CERN Document Server

    Anthony, Ray

    2014-01-01

    Be the speaker they follow with breakthrough innovative presentations Innovative Presentations For Dummies is a practical guide to engaging your audience with superior, creative, and ultra-compelling presentations. Using clear language and a concise style, this book goes way beyond PowerPoint to enable you to reimagine, reinvent, and remake your presentations. Learn how to stimulate, capture, and hold your audience in the palm of your hand with sound, sight, and touch, and get up to speed on the latest presentation design methods that make you a speaker who gets audiences committed and acting

  5. Interim restorative approach for the management of congenitally missing permanent mandibular incisors: presentation of three cases.

    Science.gov (United States)

    Prakash, Prashanth; Hallur, Jayadev M; Gowda, Rachana Narse

    2011-01-01

    Congenital missing of mandibular permanent incisors with retained primary incisors may jeopardize the esthetic appearance and psychological development of children, especially during the years of transition into adolescence. The retained primary teeth are necessary for the maintenance and normal development of alveolar bone, which in turn is essential for future definitive rehabilitation. In such situations, an interim restoration may be provided before any definitive treatment is given to comfort the young patient during this transition period. Interim restorations may include resin-modified additions to the existing teeth as well as more sophisticated restorations such as resin-retained bridge and removable partial dentures. However, this restoration differs for different clinical situations based on various factors such as age and patient compliance, and also consideration has to be given for the growth changes of the child. The aim of this present paper is to discuss the esthetic management of three cases with bilateral agenesis of permanent mandibular incisors and retained primary incisors with composite interim restoration.

  6. Interim Restorative Approach for the Management of Congenitally Missing Permanent Mandibular Incisors: Presentation of Three Cases

    Directory of Open Access Journals (Sweden)

    Prashanth Prakash

    2011-01-01

    Full Text Available Congenital missing of mandibular permanent incisors with retained primary incisors may jeopardize the esthetic appearance and psychological development of children, especially during the years of transition into adolescence. The retained primary teeth are necessary for the maintenance and normal development of alveolar bone, which in turn is essential for future definitive rehabilitation. In such situations, an interim restoration may be provided before any definitive treatment is given to comfort the young patient during this transition period. Interim restorations may include resin-modified additions to the existing teeth as well as more sophisticated restorations such as resin-retained bridge and removable partial dentures. However, this restoration differs for different clinical situations based on various factors such as age and patient compliance, and also consideration has to be given for the growth changes of the child. The aim of this present paper is to discuss the esthetic management of three cases with bilateral agenesis of permanent mandibular incisors and retained primary incisors with composite interim restoration.

  7. Behavioural present value

    OpenAIRE

    Krzysztof Piasecki

    2013-01-01

    Impact of chosen behavioural factors on imprecision of present value is discussed here. The formal model of behavioural present value is offered as a result of this discussion. Behavioural present value is described here by fuzzy set. These considerations were illustrated by means of extensive numerical case study. Finally there are shown that in proposed model the return rate is given, as a fuzzy probabilistic set.

  8. CERN Electronics Pool presentations

    CERN Multimedia

    2011-01-01

    The CERN Electronics Pool has organised a series of presentations in collaboration with oscilloscope manufacturers. The last one will take place according to the schedule below.   Time will be available at the end of the presentation to discuss your personal needs. The Agilent presentation had to be postponed and will be organised later. -     Lecroy: Thursday, 24 November 2011, in 530-R-030, 14:00 to 16:30.

  9. Presentation skills for nurses.

    Science.gov (United States)

    Foulkes, Mark

    2015-02-20

    This article emphasises the importance of effective presentation skills. Such skills allow nurses to share knowledge and expertise and to communicate clearly in a range of workplace scenarios. Nurses are increasingly being asked to present in formal and informal situations, such as conferences, poster presentations, job interviews, case reports and ward-based teaching. This article explores the principles underpinning the development of these skills, discusses the situations in which they could be applied and demonstrates how nurses might improve and develop as presenters.

  10. Conjugando el presente

    Directory of Open Access Journals (Sweden)

    Héctor Rojas Herazo

    1968-06-01

    Full Text Available La añoranza suele ser, casi siempre, la línea critica de menor resistencia. El lema de que "todo tiempo pasado fue mejor" tiene un poco la culpa. En cualquier orden del conocimiento el pasado sigue el verdadero presente. Ese presente en que nos gusta respirar y vivir. Nada de compromiso circundante. Nada de inmediatez.

  11. Presentism meets black holes

    CERN Document Server

    Romero, Gustavo E

    2014-01-01

    Presentism is, roughly, the metaphysical doctrine that maintains that whatever exists, exists in the present. The compatibility of presentism with the theories of special and general relativity was much debated in recent years. It has been argued that at least some versions of presentism are consistent with time-orientable models of general relativity. In this paper we confront the thesis of presentism with relativistic physics, in the strong gravitational limit where black holes are formed. We conclude that the presentist position is at odds with the existence of black holes and other compact objects in the universe. A revision of the thesis is necessary, if it is intended to be consistent with the current scientific view of the universe.

  12. Comparative analysis of ultrasonic and MRI in diagnosis of fetal agenesis of corpus callosum%超声及MRI诊断胎儿胼胝体发育不全的对比分析

    Institute of Scientific and Technical Information of China (English)

    邹丽华; 康敏; 杨家翔; 赵婧; 石涛

    2014-01-01

    目的 探讨产前超声对胎儿胼胝体发育不全(agenesis of the corpus callosum,ACC)的诊断价值及临床意义.方法 对超声诊断胼胝体发育不全的17例胎儿,结合核磁共振(MRI)、出生后或引产结果进行分析比较.结果 17例超声诊断完全型ACC 6例,部分型ACC 11例;2例完全型ACC及1例部分型ACC的超声结论与MRI检查结果一致,5例完全型ACC及7例部分型ACC与引产或出生后结果一致;13例行染色体检查,4例染色体异常;9例合并其它畸形或多种畸形并存.结论 产前超声检查对诊断胎儿ACC特别是完全型ACC具有一定的优势,胎儿ACC常合并其它畸形,MRI是诊断胎儿ACC的必要手段.

  13. Workshop Presentations: BSCW Analysts

    Data.gov (United States)

    National Aeronautics and Space Administration — These slides were presented at the AePW, April 21-22, 2012. They detail the analytical results generated by each of the participating analysis teams for the...

  14. Workshop Presentations: RSW Analysts

    Data.gov (United States)

    National Aeronautics and Space Administration — These slides were presented at the AePW, April 21-22, 2012. They detail the analytical results generated by each of the participating analysis teams for the...

  15. Workshop Presentations: HIRENASD Analysts

    Data.gov (United States)

    National Aeronautics and Space Administration — These slides were presented at the AePW, April 21-22, 2012. They detail the analytical results generated by each of the participating analysis teams for the HIRENASD.

  16. Fostering oral presentation performance

    NARCIS (Netherlands)

    Ginkel, van Stan; Gulikers, Judith; Biemans, Harm; Mulder, Martin

    2016-01-01

    Previous research revealed significant differences in the effectiveness of various feedback sources for encouraging students’ oral presentation performance. While former studies emphasised the superiority of teacher feedback, it remains unclear whether the quality of feedback actually differs bet

  17. Blade Testing Trends (Presentation)

    Energy Technology Data Exchange (ETDEWEB)

    Desmond, M.

    2014-08-01

    As an invited guest speaker, Michael Desmond presented on NREL's NWTC structural testing methods and capabilities at the 2014 Sandia Blade Workshop held on August 26-28, 2014 in Albuquerque, NM. Although dynamometer and field testing capabilities were mentioned, the presentation focused primarily on wind turbine blade testing, including descriptions and capabilities for accredited certification testing, historical methodology and technology deployment, and current research and development activities.

  18. Presenting New Grammar

    Institute of Scientific and Technical Information of China (English)

    WU Cai-ling; WANG Xi

    2015-01-01

    More and more researchers have now agreed upon the necessity of teaching grammar, but it still remains controversial as how to teach the forms, with the central consideration of not to harm the meaning-focused communicative teaching method. In this essay, one of the issues in grammar teaching will be discussed as how to present new grammar to learners, through evaluating and modifying a particular presentation activity in a grammar-teaching textbook.

  19. Communication and presentation skills

    OpenAIRE

    Lorencová, Ivana

    2014-01-01

    This bachelor thesis deals with individual factors of communication and basic presentations skills. The theoretical part specifies the basic elements of verbal and non-verbal communication and basic factors connected with preparation and realisation of a presentation. The practical part of the thesis comprises an analysis of impacts of speaker's visual and other communication influences over an audience. The results are applied to a Multimedia Display exhibition taking place during the bachel...

  20. Developing a paper presentation.

    Science.gov (United States)

    Pierce, L L; Gregg, M M

    1994-01-01

    The purpose of this article is to provide suggestions for developing and presenting papers at an educational conference or other professional meeting. The authors offer suggestions on how to write an abstract, deal with rejection or success, develop an outline, construct a lecture, select audiovisual materials, and use public-speaking skills. The practical strategies described in this article are intended to enable rehabilitation nurses and other readers to develop and/or enhance their paper presentations.

  1. Stellar Presentations (Abstract)

    Science.gov (United States)

    Young, D.

    2015-12-01

    (Abstract only) The AAVSO is in the process of expanding its education, outreach and speakers bureau program. powerpoint presentations prepared for specific target audiences such as AAVSO members, educators, students, the general public, and Science Olympiad teams, coaches, event supervisors, and state directors will be available online for members to use. The presentations range from specific and general content relating to stellar evolution and variable stars to specific activities for a workshop environment. A presentation—even with a general topic—that works for high school students will not work for educators, Science Olympiad teams, or the general public. Each audience is unique and requires a different approach. The current environment necessitates presentations that are captivating for a younger generation that is embedded in a highly visual and sound-bite world of social media, twitter and U-Tube, and mobile devices. For educators, presentations and workshops for themselves and their students must support the Next Generation Science Standards (NGSS), the Common Core Content Standards, and the Science Technology, Engineering and Mathematics (STEM) initiative. Current best practices for developing relevant and engaging powerpoint presentations to deliver information to a variety of targeted audiences will be presented along with several examples.

  2. The psychological present.

    Science.gov (United States)

    Hayes, L J

    1992-01-01

    The present paper compares behavior-analytic and cognitive treatments of the concept of psychological history with regard to its role in current action. Both treatments take the position that the past bears some responsibility for the present, and are thereby obligated to find a means of actualizing the past in the present. Both do so by arguing that the past is brought to bear in the present via the organism. Although the arguments of the two positions differ on this issue, neither provides a complete account. An unconventional treatment of psychological history is proposed, the logic of which is exemplified in anthropological, biological, and psychological perspectives. The unconventional treatment in psychological perspective holds that (a) the organism's interaction with its environment, not the organism itself, changes with experience; and (b) the past interactions of an organism exist as, and only as, the present interactions of that organism. This solution to the problem of psychological history provides obligations and opportunities for analysis that are not available when the more conventional positions of cognitivism and behavior analysis are adopted.

  3. TUBERCULOSIS PRESENTING AS EPIGLOTTITIS

    Directory of Open Access Journals (Sweden)

    FAHIM AHMED SHAH

    2015-03-01

    Full Text Available We report a rare case of laryngeal tuberculosis in Oman Tuberculous affection of larynx is un-common in Oman and is rarely been reported. Tuberculosis is a chronic illness, acute clinical presentation is unusual. We report the case of a thirty One year old lady, post renal transplant with tuberculous involvement of the larynx, who presented with symptoms and clinical signs of acute epiglottitis. ENT examination showed initially a severely swollen epiglottis which turned nodular in about two weeks. The patient had been on immunosuppressive medications and glucocorticoids post renal trans-plant. Tuberculosis still presents sporadically in countries where the overall incidence of tuber-culosis is much lower as compared to developing countries. A strong index of suspicion is needed in immunocompromised patients with suboptimal response to routine medications. Diagnostic difficulty in this peculiar situation with differential diagnosis and management of laryngeal tuberculosis is discussed along with review of literature.

  4. [Atypical presentation of preeclampsia].

    Science.gov (United States)

    Ditisheim, A; Boulvain, M; Irion, O; Pechère-Bertschi, A

    2015-09-09

    Preeclampsia is a pregnancy-related syndrome, which still represents one of the major causes of maternal-fetal mortality and morbidity. Diagnosis can be made difficult due to the complexity of the disorder and its wide spectrum of clinical manifestations. In order to provide an efficient diagnostic tool to the clinician, medical societies regularly rethink the definition criteria. However, there are still clinical presentations of preeclampsia that escape the frame of the definition. The present review will address atypical forms of preeclampsia, such as preeclampsia without proteinuria, normotensive preeclampsia, preeclampsia before 20 weeks of gestation and post-partum preeclampsia.

  5. Milk: Past and Present

    Science.gov (United States)

    Bulajić, S.; Đorđević, J.; Ledina, T.; Šarčević, D.; Baltić, M. Ž.

    2017-09-01

    Although milk/dairy consumption is part of many cultures and is recommended in most dietary guidelines around the world, its contribution to overall diet quality remains a matter of controversy, leading to a highly polarized debate within the scientific community, media and public sector. The present article, at first, describes the evolutionary roots of milk consumption, then reviews the milk-derived bioactive peptides as health-promoting components. The third part of the article, in general, presents the associations between milk nutrients, disease prevention, and health promotion.

  6. Book Presentation | 27 February

    CERN Multimedia

    The CERN Library

    2013-01-01

    "A caccia del bosone di Higgs. Magneti, governi, scienziati e particelle nell'impresa scientifica del secolo" by Luciano Maiani and Romeo Bassoli, published by Mondadori. On Wednesday 27 February Luciano Maiani will present the book "A caccia del bosone di Higgs. Magneti, governi, scienziati e particelle nell'impresa scientifica del secolo". More information here. The presentation will take place in the Council Chamber at 16.00 and will be followed by a debate and book signing. The book will be on sale. You are cordially invited.

  7. Effective lecture presentation skills.

    Science.gov (United States)

    Gelula, M H

    1997-02-01

    Lectures are the most popular form of teaching in medical education. As much as preparation and organization are key to the lecture's success, the actual presentation also depends upon the presenter's ability to reach the audience. Teaching is a lively activity. It calls for more than just offering ideas and data to an audience. It calls for direct contact with the audience, effective use of language, capability to use limited time effectively, and the ability to be entertaining. This article offers a structure to effective lecturing by highlighting the importance of voice clarity and speaking speed, approaches to using audiovisual aids, effectively using the audience to the lecture, and ways to be entertaining.

  8. Imagined futures, present lives

    DEFF Research Database (Denmark)

    Dalsgaard, Anne Line; Wildermuth, Norbert

    2006-01-01

    is discussed centrally in this attempt to contribute to an empirically grounded understanding of the role that media play for youth in their striving to ‘find a place in life'. In the empirical context presented in the article, imaginations, expanded and circulated by a globalized media circuit...

  9. Generating Embodied Information Presentations

    NARCIS (Netherlands)

    Theune, M.; Heylen, D.; Nijholt, A.; Stock, O.; Zancanaro, M.

    2005-01-01

    The output modalities available for information presentation by embodied, human-like agents include both language and various nonverbal cues such as pointing and gesturing. These human, nonverbal modalities can be used to emphasize, extend or even replace the language output produced by the agent. T

  10. Presentation design: pecha kucha

    OpenAIRE

    Aníbal, J.

    2011-01-01

    Global presentation phenomena has started in 2003. Pecha Kucha: change in attitude • wonderfully creative • unconventional way “to do PowerPoint". Design is about people creating solutions that help or improve the lives of other people. "Design is not an art although there is art in it", Garr Reynolds.

  11. Creating Meaningful Multimedia Presentations

    NARCIS (Netherlands)

    Hardman, L.; Ossenbruggen, J.R. van

    2006-01-01

    Finding relevant information is one step in the chain of understanding information. Presenting material to a user in a suitable way is a further step. Our research focuses on using semantic annotations of multimedia elements to increase the ”presentability” of retrieved info

  12. The Persistence of Presentism

    Science.gov (United States)

    Hargreaves, Andy; Shirley, Dennis

    2009-01-01

    Background/Context: This study draws on the voluminous research on teachers' workplace orientations and especially on Dan Lortie's documentation of conservatism, individualism, and presentism among teachers. Purpose/Objective/Research Question/Focus of Study: This study investigated a school reform network of over 300 secondary schools entitled…

  13. Presentation of 2004 earnings

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2005-03-01

    This presentation offers financial information on the AREVA Group earnings for the year 2004. With manufacturing facilities in over 40 countries and a sales network in over 100, Areva offers customers technological solutions for nuclear power generation and electricity transmission and distribution. The Group also provides interconnect systems to the telecommunications, computer and automotive markets. (A.L.B.)

  14. Neurosyphilis: Various Presentations

    Directory of Open Access Journals (Sweden)

    Kezban Aslan

    2012-12-01

    Full Text Available Neurosphylisis develops in about 5 % of untreated patients infected with Treponema pallidum. Spirocet, disseminates systemically hours to days after inoculation. Early invasion to central nervous system can be seen in infected patients without symptomatic. In these lecture we presented three patients with different complain. The patients have had; diplopia, headache and blurred vision, numness and slimming of legs.

  15. Presentation design: pecha kucha

    OpenAIRE

    Aníbal, J.

    2011-01-01

    Global presentation phenomena has started in 2003. Pecha Kucha: change in attitude • wonderfully creative • unconventional way “to do PowerPoint". Design is about people creating solutions that help or improve the lives of other people. "Design is not an art although there is art in it", Garr Reynolds.

  16. Presentism and black holes

    NARCIS (Netherlands)

    Sengers, G. (Geurt)

    2017-01-01

    textabstractIn a recent publication in the European Journal for Philosophy of Science (Romero and Pérez, European Journal for Philosophy of Science, 4, 293–308, 2014), Romero and Pérez claim to reveal new trouble for the already difficult life of presentism in relativistic spacetimes. Their argument

  17. Managing Presentation Anxiety

    Science.gov (United States)

    Hartman, Jackie L.; LeMay, Elaine

    2004-01-01

    All business communication professors struggle with anxiety-ridden students when discussing public speaking. To alleviate students' fears of speaking in public a process was designed to allow business communication students to acknowledge, address, and annul their presentation fears. A six-year comparative study using qualitative methods and…

  18. Econophysics: Past and present

    Science.gov (United States)

    de Area Leão Pereira, Eder Johnson; da Silva, Marcus Fernandes; Pereira, H. B. B.

    2017-05-01

    This paper provides a brief historical review of the relationship between economics and physics, beginning with Adam Smith being influenced by Isaac Newton's ideas up to the present day including the new econophysics discipline and some of the tools applied to the economy. Thus, this work is expected to motivate new researchers who are interested in this new discipline.

  19. Cystosarcoma phyllodess. Case presentation

    Directory of Open Access Journals (Sweden)

    Lidia Torres Ajá

    2006-08-01

    Full Text Available A 12 year-old patient is presented, with tumor of the left breast of 11,7 cms, of quick growth, without another accompanying sintomatology, which was diagnosed as cystosarcoma phyllodess benign. In the twenty-five years of existence of our hospital, it is the first tumor phyllodes detected in girl, for that is considered a curious and interesting case that can enrich the experience of other professionals of the health.

  20. Ground Vehicle Robotics Presentation

    Science.gov (United States)

    2012-08-14

    Mr. Jim Parker Associate Director Ground Vehicle Robotics Distribution Statement A. Approved for public release Report Documentation Page...Briefing 3. DATES COVERED 01-07-2012 to 01-08-2012 4. TITLE AND SUBTITLE Ground Vehicle Robotics Presentation 5a. CONTRACT NUMBER 5b. GRANT...ABSTRACT Provide Transition-Ready, Cost-Effective, and Innovative Robotics and Control System Solutions for Manned, Optionally-Manned, and Unmanned

  1. EPIDEMIOLOGY LENSES : A PRESENTATION

    Directory of Open Access Journals (Sweden)

    Prakash V. Kotecha

    2010-07-01

    Full Text Available The presentation started with his nostalgic memory with Professor NR Mehta, Professor DH Trivedi and Professor AK Niyogi with whom he had the opportunity to work as a student and then as a colleague. He refreshed his memory as warden of Dr. Jivraj Mehta Hall where his predecessors were Prof NR Mehta and Professor DH Trivedi and he remembered to be the first time examiner with Prof. Niyogi who was examiner with him for the last time in his career .....

  2. Scleroderma. A case presentation.

    Directory of Open Access Journals (Sweden)

    Rubén Bembibre Taboada

    2005-08-01

    Full Text Available This article presents a brief review about generalized sclerosis (sclerodermia and reports a case with such disease talking into consideration that the patient received clinical intensive care assistaance and had a clinical diagnosis supoported by lab test for a clinical and differential diagnosis. Medical treatment was applied for the disease and for the possible complications, but the patients follow up was wrong due to multi organ failure as a consequence of derlying disease.

  3. Presentation = Speech + Slides

    Directory of Open Access Journals (Sweden)

    Derik Badman

    2008-12-01

    Full Text Available Back in October, Aaron Schmidt posted “HOWTO give a good presentation” to his blog walking paper. His second bullet point of “thoughts” on good presentations is: Please don’t fill your slides with words. Find some relevant and pretty pictures to support what you’re saying. You can use the pictures to remind yourself what you’re going [...

  4. Neurosyphilis presenting as parkinsonism.

    Science.gov (United States)

    McAuley, John; Hughes, Gaenor

    2015-09-28

    In the postantibiotic era, neurosyphilis continues to have a significant incidence, especially in certain subpopulations. We report, for the first time, neurosyphilis presenting as parkinsonism without more typical neurosyphilitic clinical features. A 53-year-old man developed clinical features of gradual onset consistent with idiopathic Parkinson's disease but was found to have positive treponemal serology and cerebrospinal fluid Venereal Disease Research Laboratory (VRDL) reaction. Antibiotic treatment dramatically improved all the parkinsonian symptoms. However, over the subsequent 15 years, the patient slowly deteriorated again in a manner typical of idiopathic Parkinson's disease. A dopaminergic deficit was demonstrated on ((123)I)FP-CIT SPECT. This is the first report in the postantibiotic era of neurosyphilis presenting as relatively pure parkinsonism. Blood test screening for syphilis is therefore appropriate if there is any clinical doubt about an idiopathic parkinsonian presentation. The patient's late second deterioration may suggest that the neurosyphilitic basal ganglial insult primed or accelerated development of idiopathic-like disease. 2015 BMJ Publishing Group Ltd.

  5. Tuberous Sclerosis: Multiple Presentations

    Directory of Open Access Journals (Sweden)

    M. Sanei Taheri

    2008-01-01

    Full Text Available Introduction: Tuberous sclerosis is an autosomal do-minant genetic disorder that involves multiple or-gans. The predominant lesions are the hamartomas. Classically tuberous sclerosis has been characterized by a classic clinical triad of facial angiofibromas in 90%,retardation in 50-80%,seizure 80-90% and all three in 30%."nThe disease occurs in 1:100,000 persons in all races with nearly equal distribution between the sexes. "nCase Presentation: We had six patients who admitted with different presentations of tuberous sclerosis with a past history of convulsion from childhood, skin le-sions and mental retardation, also with new onset headache and changed pattern of convulsion. In physical examination facial angiofibromas and sub-ungual fibromas apparently detected. Brain CT scan study with contrast showed multiple calcified nod-ules associated with tubers and ventriculomegaly, also an enhancing enlarged nodule at foramen of mo-nro, which was suggestive of subependymal giant cell astrocytoma (SGCA. In abdominal and pelvic CT scan and ultrasonography, massive bilateral angio-myolipomatosis diagnosed. Also Focal hypodense le-sions in liver which were hyperechoic in ultrasono-graphy were diagnosed. With MRI study tubers, white matter lesions and subependymal nodules asso-ciated with SGCA were detected better. After surgery SGCA was proved."nDiscussion: Our patients had different presentations and various findings of this spectrum discussed in this lecture.

  6. Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association

    Directory of Open Access Journals (Sweden)

    Pricila Bernardi

    Full Text Available CONTEXT: The association between fibular dimelia and mirror polydactyly of the foot is considered to be a very rare lower-limb abnormality. On the other hand, VACTERL is an acronym for a nonrandom association of congenital anomalies for which the etiology is still poorly understood. CASE REPORT: The patient was a seven-month-old white girl whose mother had used misoprostol in the second month of pregnancy to induce abortion. On clinical evaluation, she was small for her age and presented hypotonia, anteverted nares, long philtrum and carp-like mouth. Her left hand had a reduction defect, with absence of the extremities of the second, third and fifth fingers and camptodactyly of the fourth finger. The ipsilateral lower limb presented significant shortening, especially rhizomelic shortening. Her left foot had a mirror configuration with seven toes and no identifiable hallux. The pelvis was hypoplastic. Esophageal atresia with tracheoesophageal fistula and imperforate anus were detected during the neonatal period. Abdominal ultrasound identified agenesis of the right kidney and left pyelocaliceal duplication. Radiographic evaluation on the left side showed iliac and femoral hypoplasia, absence of the tibia with a duplicated fibula and seven metatarsals and toes with no identifiable hallux on the foot. Echocardiography demonstrated an atrial septal defect. Based on the literature, we believe that the spectrum of malformations presented by our patient may be related to the vascular disruptive effect of the misoprostol. However, we cannot rule out the possibility that this association might simply be a coincidence.

  7. Xeroderma pigmentosum. Case presentation.

    Directory of Open Access Journals (Sweden)

    Damaris Díaz Leonard

    2008-08-01

    Full Text Available Twelve years old patient (YGS, female, white, of rural origin; with history of facial and truncal bullae since the age of eight months when exposed to the sun light. It was first diagnosed as solar dermatitis. At the age of 6 it was assessed as xeroderma pigmentosum. This diagnosis was confirmed at the age of 10 by the histopathology department and reassessed by the National Reference Centre. For the infrequency of this disease, a bibliographic revision was carried out to make a report for this case presentation.

  8. Toxocariasis Presenting as Encephalomyelitis

    Directory of Open Access Journals (Sweden)

    Gregory Helsen

    2011-01-01

    Full Text Available We describe a farmer who presented with a clinical picture of a transverse thoracic myelitis. MRI showed inflammatory lesions in brain and thoracic spinal cord. Toxocariasis was suspected because of eosinophilia in blood and cerebrospinal fluid, and this diagnosis was confirmed immunologically. He was successfully treated with antihelminthics in combination with corticosteroids. Neurotoxocariasis is rare and diagnosis can be difficult because of the different and atypical clinical manifestations. It should be considered in every case of central neurological syndrome associated with eosinophilia.

  9. Exit Presentation -- Maintaining Balance

    Science.gov (United States)

    Heap, Erin

    2010-01-01

    This slide presentation reviews the projects which the author engaged in during an internship at Johnson Space Center. Project 1 was involved with Stochastic Resonance (SR). Stochastic resonance is a phenomenon in which the response of a non-linear system to a weak input signal is optimized by the presence of a particular non-zero level of noise. The goal of this project was to develop a countermeasure for sensorimotor disturbances that are experienced after long duration space flight. The second project was a pilot study that was to examine how adaptation to a novel functional task was affected by postural disturbance.

  10. Sarcoidosis Presenting Addison's Disease.

    Science.gov (United States)

    Takahashi, Kentaro; Kagami, Shin-Ichiro; Kawashima, Hirotoshi; Kashiwakuma, Daisuke; Suzuki, Yoshio; Iwamoto, Itsuo

    2016-01-01

    We herein describe a second Japanese case of sarcoidosis presenting Addison's disease. A 52-year-old man was diagnosed with sarcoidosis based on clinical and laboratory findings, including bilateral hilar lymphadenopathy and elevated levels of serum angiotensin-converting enzyme and lysozyme, as well as the presence of noncaseating epithelioid granulomas. The patient also exhibited general fatigue, pigmentation, weight loss, hypotension and hyponatremia, suggestive of chronic adrenocortical insufficiency. An endocrine examination confirmed primary adrenocortical insufficiency. This case suggests the direct involvement of sarcoid granuloma in the adrenal glands.

  11. Presenting Newtonian gravitation

    Energy Technology Data Exchange (ETDEWEB)

    Counihan, Martin [School of Physics and Astronomy, University of Southampton, Highfield, Southampton SO17 1BJ (United Kingdom)

    2007-11-15

    The basic principles of the Newtonian theory of gravitation are presented in a way which students may find more logically coherent, mathematically accessible and physically interesting than other approaches. After giving relatively simple derivations of the circular hodograph and the elliptical orbit from the inverse-square law, the concept of gravitational energy is developed from vector calculus. It is argued that the energy density of a gravitational field may reasonably be regarded as -g{sup 2}/8{pi}G, and that the inverse-square law may be replaced by a Schwarzschild-like force law without the need to invoke non-Euclidean geometry.

  12. Analyzing in the present

    DEFF Research Database (Denmark)

    Revsbæk, Line; Tanggaard, Lene

    2015-01-01

    The article presents a notion of “analyzing in the present” as a source of inspiration in analyzing qualitative research materials. The term emerged from extensive listening to interview recordings during everyday commuting to university campus. Paying attention to the way different parts...... the interdependency between researcher and researched. On this basis, we advocate an explicit “open-state-of mind” listening as a key aspect of analyzing qualitative material, often described only as a matter of reading transcribed empirical materials, reading theory, and writing. The article contributes...

  13. 小儿先天性肺不发育和发育不良的X线诊断(附13例X线分析)%An Analyses of X-ray Diagnosis of 13 Cases of Congenital Pulmonary Agenesis and Hypoplasia in Children

    Institute of Scientific and Technical Information of China (English)

    陈豹; 顾海滨; 赵晨

    2001-01-01

    Objective:To evaluate the efficacy of imaging diagnisis of congenital pulmonary agenesis and hypoplasia in children.Methods:The 13 cases of congenital pulmonary agenesis and hypoplasia were veritfied by bronchcscopy and operation or pathology the characteristics of the X-ray,CT and bronchography were analysed.Results:the X-ray features included:(1)capacity decreased and density increased of diseased lung;(2)small hilar pulmonis;(3)mediastinum shifted to the affected side.Conclusion:Radiography is a good procedure in diagnosis of the most cases of congenital pulmonary agenesis and hypoplasia.%目的:评价X线检查对小儿先天性肺不发育和发育不良的诊断作用。方法:对13例先天性肺不发育和发育不良经支气管镜检、手术或病理证实的X线平片、CT扫描、支气管造影分析其影像学表现。结果:本病X线检查的影像特征为:(1)患肺容积小、密度增高;(2)小肺门;(3)纵隔移向患侧。结论:X线检查对先天性肺不发育和发育不良是一很好的诊断方法。

  14. Bad (Re)Presentations

    CERN Multimedia

    Computer Security Team

    2013-01-01

    This time, we would like to address copyright violations (again) - but with a twist. While previous articles focussed on “Music, videos and the risk for CERN” or on software licences, the focus is now on using photos, music and images “found” on the Web for presentations, publications and web pages…   Just recently, a video produced for CERN and published on YouTube and Facebook used background music from a contemporary popular artist. However, the people responsible failed to obtain the appropriate permission to actually use that music. They thought that having bought it on iTunes was sufficient. But it was not: “buying” means you have the right to listen, but not the right for further distribution or re-publication. As a result, the videos were pulled from YouTube and Facebook. Similarly, how many of us integrate graphics and images “found” on the Web into our presentations?  How many of us...

  15. Summaries of Presentations

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2000-07-01

    This two-day conference on the ecology of the Columbia River Reservoirs was organized by the Columbia Mountains Institute of Applied Ecology. Presentations focused on key differences between the former natural river system and the current system of reservoirs now comprising much of the Columbia River. The first day of the workshop consisted of presentations at the Revelstoke Community Centre. The second day included a choice of field trips to the Columbia River Flats to hear about BC Hydro's revegetation program and the bird migration monitoring station; a tour of the revegetation work at the Illeciwaet Greenbelt; a tour of the Revelstoke Dam; or a canoe trip. The workshop was financially supported by Fisheries Renewal BC, through the Columbia-Kootenay Fisheries Renewal Partnership. The list of papers presented were: (1) The value of the Columbia River to the First Nations' by Wilfred Jacob of the Ktunaxa-Kinbasket Tribal Council, (2) 'Big River Ecology' by Jack Stanford of the University of Montana, (3) 'Sinixt Nation perspective on the Columbia River' by Marilyn James of the Sinixt Nation, (4) 'Cottonwood floodplain ecology - Current status and restoration options' by Bob Jamieson of BioQuest International Consulting Ltd., (5) 'Wildlife and reservoirs in the Kootenay Region' by Ray Dichromium of Ecodomain Consulting, (6) 'Operational Regime of the Columbia River - How much flexibility is there to manage biological resources?' by Ralph Legge of BC Hydro, (7) 'Biological implications of the current operational regime - Management options' by Gary Birch of BC Hydro, (8) 'Challenge of managing fisheries in the Columbia River' by Jay Hammond of the BC Ministry of Environment, (9) 'Ecology and genetics of wild fish and their interaction with hatcheries' by Mart Gross of the University of Toronto, (10) 'Fertilization as a mitigation option for nutrient depletion' by Ken

  16. Film Presentation: Die Urknallmaschine

    CERN Multimedia

    Carolyn Lee

    2010-01-01

    Die Urknallmaschine, an Austrian film by Gerd Baldauf, narrated by Norbert Frischauf (Alpha Österreich - ORF, 2009).  In CERN’s gigantic complex particles are accelerated to almost the speed of light, brought to collision and made to divide into even smaller particles. Public opinion of CERN’s research is also divided. Sceptics fear that black holes may be created. Might the goal to study the origin of the world lead to its destruction? The Austrian researcher Norbert Frischauf worked at CERN for many years. With his guidance it is possible to explore the world’s largest research centre, get a glimpse of the fascinating work the scientists do there and take a crash course in particle physics. Die Urknallmaschine will be presented on Friday, 25 June from 13:00 to 14:00 in the Main Auditorium. Language: German

  17. Presenting practice financial information.

    Science.gov (United States)

    Webster, Lee Ann H

    2007-01-01

    Medical practice leadership teams, often consisting primarily of physicians with limited financial backgrounds, must make important business decisions and continuously monitor practice operations. In order to competently perform this duty, they need financial reports that are relevant and easy to understand. This article explores financial reporting and decision-making in a physician practice. It discusses reports and tools, such as ratios, graphs, and comparisons, that practices typically include in their reports. Because profitability and cash flow are often the most important financial considerations for physician practices, reports should generally focus on the impact of various activities and potential decisions upon these concerns. This article also provides communication tips for both those presenting practice financial information and those making the decisions. By communicating effectively, these leaders can best use financial information to improve decision-making and maximize financial performance.

  18. RESRAD model presentation

    Energy Technology Data Exchange (ETDEWEB)

    Yu, C.; Faillace, E.; Chen, S.Y. [Argonne National Lab., IL (United States); Wallo, A. III; Williams, W.A.; Peterson, H.; Domotor, S. [Dept. of Energy, Washington, DC (United States)

    1998-05-01

    RESRAD was one of the multimedia models selected by the US Nuclear Regulatory Commission (NRC) to include in its workshop on radiation dose modeling and demonstration of compliance with the radiological criteria for license termination. This paper is a summary of the presentation made at the workshop and focuses on the 10 questions the NRC distributed to all participants prior to the workshop. The code selection criteria, which were solicited by the NRC, for demonstrating compliance with the license termination rule are also included. Among the RESRAD family of codes, RESRAD and RESRAD-BUILD are designed for evaluating radiological contamination in soils and in buildings. Many documents have been published to support the use of these codes. This paper focuses on these two codes. The pathways considered, the databases and parameters used, quality control and quality assurance, benchmarking, verification and validation of these codes, and capabilities as well as limitations of these codes are discussed in detail.

  19. Parathyroid adenoma. Case presentation

    Directory of Open Access Journals (Sweden)

    Daniel Olivera Fajardo

    2016-10-01

    Full Text Available Parathyroid Adenoma is a non-malignant tumor of the thyroid glands, which increases the levels of parathormone. This hormone regulates blood and bone levels of calcium, phosphorus and Vitamin D. Its classic triad is characterized by the increase of the levels of parathormone, hyperkalimia and Hipophosphatemia. This entity affects between 500-1000 inhabitants and is the main cause of primary Hyperparathyroidism in about 80-85% of the patients. It is presented a case of a 69 year old female patient, admitted due to pathologic fractures of hip, clavicle, and fingers, caused by primary hyperparathyroidism originated by parathyroid adenoma. For the low incidence of this entity, its publication is considered of interest for the scientific staff.

  20. Tuberous sclerosis. Case presentation.

    Directory of Open Access Journals (Sweden)

    Graciela Caridad Cabrera Acea

    2009-03-01

    Full Text Available A mixed race female, 34 years of age was attended due to papule lesions in the facial area between one and ten mm of diameter. These lesions were flat, with skin colour, symmetrically distributed in the central part of the face (cheeks, chin and nose, of soft texture with telangiectasia. She referred to present these lesions since she was seven years of age, and three months before attending to consultation she noticed an increase in the number and size of these lesions. The patient has a normal intelligence coefficient and declared family history of these lesions. The diagnosis was sebaceous adenoma. Since this is not a frequent disease and due to the patient’s age we decided to publish this case.